Inheritance of spina bifida. Spina Bifida: Genetic Mutations, Pathophysiology, and Emerging Therapies

12.07.202326.06.2023 by alexxlab

What causes spina bifida. How do mosaic mutations contribute to neural tube defects. Can spina bifida be inherited. What are the latest treatments for spina bifida. How does folic acid prevent neural tube defects. What is the role of the Vangl2 gene in spina bifida. How can cellular therapies help treat spina bifida.

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Unveiling the Genetic Roots of Spina Bifida

Spina bifida, a severe birth defect affecting the spinal cord, has long puzzled researchers and medical professionals. Recent groundbreaking research has shed new light on the genetic underpinnings of this condition, challenging previous assumptions about its inheritance patterns.

A study led by scientists at UCL Great Ormond Street Institute of Child Health, published in Nature Communications, has revealed that spina bifida can be caused by uninherited genetic mutations. These mutations, known as mosaic mutations, occur randomly during the earliest stages of embryonic development rather than being passed down from parents through sperm or egg cells.

The Role of Mosaic Mutations

How do mosaic mutations contribute to spina bifida? The research team discovered that when a mutation in the Vangl2 gene was present in just 16% of developing spinal cord cells in mouse embryos, it was sufficient to cause spina bifida. This finding provides crucial insights into the mechanisms underlying neural tube defects and challenges the notion that these conditions are always inherited.

Mosaic mutations occur during early embryonic cell divisions
They are not inherited from either parent
A small percentage of affected cells can lead to significant developmental issues

Dr. Gabriel Galea, the Principal Investigator of the study, emphasized the importance of this discovery: “The finding that mosaic mutations, which cause spina bifida, may not be inherited from either parent, and are not necessarily present in blood or saliva commonly used for genetic testing, may explain why very few affected individuals or their parents receive a meaningful genetic diagnosis.”

Understanding Neural Tube Defects and Spina Bifida

Neural tube defects, including spina bifida, are a group of birth defects that affect the brain or spinal cord. These conditions develop during the first month of pregnancy, often before a woman is aware she is pregnant. In spina bifida, part of the spinal cord remains exposed during fetal development, leading to nerve damage and various neurological consequences.

Prevalence and Prevention

How common are neural tube defects? These conditions affect approximately one in every thousand pregnancies globally. While some neural tube defects can be prevented by taking folic acid supplements before and during early pregnancy, they continue to occur despite this preventive measure.

Can folic acid completely prevent spina bifida? While folic acid supplementation has been shown to reduce the risk of neural tube defects, it is not a guarantee. The exact mechanisms by which folic acid prevents these conditions are not fully understood, but it is known to play a crucial role in DNA synthesis and cell division during early embryonic development.

The Vangl2 Gene: A Key Player in Spinal Cord Development

The Vangl2 gene has emerged as a critical factor in the development of spina bifida. This gene is part of a cellular signaling pathway that provides directional information to cells within tissues. Mutations in this pathway have been identified in individuals with neural tube defects, including spina bifida.

Cellular Communication and Tissue Formation

How does the Vangl2 gene influence spinal cord development? The Vangl2 gene is essential for proper cellular communication during tissue formation. When mutations occur in this gene, it disrupts the ability of cells to interact with their neighbors and transmit crucial directional information. This breakdown in cellular communication can lead to the improper formation of the neural tube, resulting in conditions like spina bifida.

Recent reports from the USA and China have found mosaic Vangl2-pathway mutations in 15% of human fetuses with spina bifida, highlighting the significance of this gene in the development of neural tube defects.

Experimental Approaches to Studying Spina Bifida

To better understand the role of Vangl2 mutations in spina bifida, researchers have developed innovative experimental approaches using mouse models. These studies aim to replicate the genetic conditions observed in human cases of spina bifida and provide insights into the underlying mechanisms of the disorder.

Mouse Model Studies

How do researchers study spina bifida in laboratory settings? In the UCL-led study, scientists induced specific mutations in the Vangl2 gene in a small proportion of cells that form the developing spinal cord of mouse embryos. This approach allowed them to observe the effects of mosaic mutations on neural tube formation and provided valuable insights into the minimum percentage of affected cells required to cause spina bifida.

Mouse embryos were used as a model system
Specific mutations were induced in the Vangl2 gene
The effects on spinal cord development were observed and analyzed

These experimental studies are crucial for advancing our understanding of spina bifida and developing potential therapeutic interventions.

Emerging Cellular Therapies for Spina Bifida

As our understanding of the genetic and cellular mechanisms underlying spina bifida grows, new therapeutic approaches are being explored. Cellular therapies, in particular, show promise in addressing the developmental defects associated with this condition.

Stem Cell-Based Approaches

How can stem cells be used to treat spina bifida? Researchers are investigating the potential of various stem cell types, including neural stem cells and mesenchymal stem cells, to repair and regenerate damaged spinal cord tissue. These approaches aim to promote tissue regeneration, reduce inflammation, and improve neurological function in individuals with spina bifida.

Some of the emerging cellular therapies being explored include:

Neural stem cell transplantation
Mesenchymal stem cell therapy
Induced pluripotent stem cell-derived neural progenitors
Biomaterial-assisted cell delivery systems

While these therapies are still in the experimental stages, they offer hope for improved outcomes and quality of life for individuals affected by spina bifida.

Fetal Surgery: A Revolutionary Approach to Spina Bifida Treatment

In recent years, significant advancements have been made in the field of fetal surgery for spina bifida. This groundbreaking approach allows surgeons to operate on fetuses while still in the womb, potentially reducing the neurological consequences of the condition.

Prenatal Surgical Intervention

How does fetal surgery for spina bifida work? The procedure involves carefully opening the uterus, exposing the fetal spine, and closing the defect in the neural tube. This early intervention aims to prevent further damage to the exposed spinal cord and may improve neurological outcomes for affected individuals.

Currently, fetal surgery for spina bifida is performed at a limited number of specialized centers worldwide, including Great Ormond Street Hospital and University College London Hospital. As techniques continue to improve and more data on long-term outcomes becomes available, this approach may become more widely accessible to families affected by spina bifida.

Genetic Counseling and Family Planning

The discovery that spina bifida can be caused by mosaic mutations that are not inherited from parents has significant implications for genetic counseling and family planning. This new understanding may help alleviate some of the guilt and anxiety experienced by parents who believe they may have passed on the condition to their child.

Implications for Future Pregnancies

How does the discovery of mosaic mutations affect family planning decisions? For families who have had a child with spina bifida, the knowledge that the condition may have been caused by a random genetic event rather than an inherited mutation can provide reassurance when considering future pregnancies. However, it’s important to note that this does not completely eliminate the risk of recurrence, and genetic counseling remains an essential part of the decision-making process.

Genetic counselors can help families understand:

The current understanding of spina bifida genetics
The role of both inherited and mosaic mutations
The importance of folic acid supplementation
Available prenatal testing options
The potential benefits and risks of fetal surgery

By providing up-to-date information and support, genetic counselors can empower families to make informed decisions about their reproductive options.

Future Directions in Spina Bifida Research

The discovery of mosaic mutations as a cause of spina bifida opens up new avenues for research and potential therapeutic interventions. As our understanding of the genetic and cellular mechanisms underlying this condition continues to grow, several key areas of investigation are emerging.

Advancing Genetic Diagnostics

How can we improve genetic testing for spina bifida? Given that mosaic mutations may not be detectable in blood or saliva samples commonly used for genetic testing, researchers are exploring new approaches to identify these mutations. This may involve developing more sensitive testing methods or identifying alternative sources of genetic material that better represent the affected tissues.

Exploring Environmental Factors

What role do environmental factors play in the development of spina bifida? While the focus of this research has been on genetic mutations, environmental influences cannot be ignored. Future studies will likely investigate the interplay between genetic predisposition and environmental factors, such as nutrition, exposure to toxins, and maternal health, in the development of neural tube defects.

Refining Cellular Therapies

How can we optimize cellular therapies for spina bifida treatment? As research into stem cell-based approaches progresses, scientists will work to refine these therapies, addressing challenges such as cell survival, integration, and functional recovery. This may involve developing new delivery methods, combining cell therapies with tissue engineering approaches, or exploring the potential of gene editing technologies to correct underlying genetic defects.

Improving Fetal Surgery Techniques

What advancements can we expect in fetal surgery for spina bifida? As more data becomes available on the long-term outcomes of prenatal surgical interventions, researchers and clinicians will work to refine these techniques, potentially expanding their availability and improving their safety and efficacy.

Some areas of focus for future fetal surgery research may include:

Minimally invasive surgical approaches
Optimizing timing of intervention
Combining surgery with cellular therapies
Developing novel biomaterials for defect closure

These advancements in fetal surgery could potentially lead to even better outcomes for children born with spina bifida.

Investigating Gene-Environment Interactions

How do genetic and environmental factors interact in the development of spina bifida? Future research will likely delve deeper into the complex interplay between genetic susceptibility and environmental influences. This may involve large-scale epidemiological studies, advanced genomic analyses, and the development of more sophisticated animal models that can replicate both genetic and environmental risk factors.

Understanding these interactions could lead to more targeted prevention strategies and personalized treatment approaches for individuals at risk of or affected by spina bifida.

Developing Novel Pharmacological Interventions

Can we develop drugs to prevent or treat spina bifida? As our understanding of the molecular pathways involved in neural tube formation grows, researchers may identify new targets for pharmacological intervention. This could potentially lead to the development of drugs that could prevent neural tube defects or mitigate their effects when administered during early pregnancy or even postnatally.

Some potential avenues for drug development include:

Molecules that enhance neural tube closure
Compounds that promote neural tissue regeneration
Drugs that target specific genetic pathways implicated in spina bifida
Neuroprotective agents to minimize secondary damage

These pharmacological approaches could complement existing preventive measures and surgical interventions, offering new hope for families affected by spina bifida.

Enhancing Long-Term Care and Quality of Life

How can we improve the long-term outcomes for individuals with spina bifida? While much of the current research focuses on prevention and early intervention, it’s crucial to continue developing strategies to enhance the quality of life for individuals living with spina bifida. This may involve improving rehabilitation techniques, developing assistive technologies, and addressing the psychosocial aspects of living with a chronic condition.

Future research in this area may explore:

Novel rehabilitation approaches using virtual reality or robotics
Personalized care plans based on genetic and clinical profiles
Innovative assistive devices to enhance mobility and independence
Psychological interventions to support mental health and well-being

By taking a holistic approach to spina bifida care, researchers and clinicians can work towards improving not just survival rates, but also the overall quality of life for affected individuals and their families.

As research in these areas progresses, we can expect to see significant advancements in our understanding of spina bifida and our ability to prevent, treat, and manage this complex condition. The discovery of mosaic mutations as a cause of spina bifida represents just one step in this ongoing journey of scientific discovery and medical innovation.

Spina bifida can be caused by uninherited genetic mutations | UCL News

Genetic mutations which occur naturally during the earliest stages of an embryo’s development can cause the severe birth defect spina bifida, finds a new experimental study in mice led by UCL scientists.

The study, published in Nature Communications, explains for the first time how a ‘mosaic mutation’ – a mutation which is not inherited from either parent (either via sperm or egg cell) but occurs randomly during cell divisions in the developing embryo – causes spina bifida.

Specifically the scientists, based at UCL Great Ormond Street Institute of Child Health, found that when a mutation in the gene Vangl2 (which contains information needed to create spinal cord tissue) was present in 16% of developing spinal cord cells of mouse embryos, this was sufficient to produce spina bifida.

Researchers say the findings add to scientists’ understanding of how and why mosaic mutations can affect and disrupt cell function, including those of neighbouring cells, helping cause birth defects.

For parents, the findings may help reduce the burden felt by those who believe their child inherited spina bifida from them via genes, and believe future children could also inherit the condition. This is often discussed during genetic counselling.

Spina bifida and current knowledge

Spina bifida is one of a group of birth defects called neural tube defects, affecting the brain or spinal cord. They happen in the first month of pregnancy, often before a woman even knows that she is pregnant. People born with this condition suffer nerve damage because part of their spinal cord remains exposed while in the womb. Advances in recent years now allow surgeons in a few centres around the world, including at Great Ormond Street Hospital and University College London Hospital, to perform surgery on foetuses in the womb to reduce the neurological consequences of their condition*.

Some neural tube defects can be prevented by taking folic acid supplements before and during early pregnancy, yet these conditions continue to affect around one in every thousand pregnancies globally. Researchers say they do not fully understand why mosaic mutations occur – though environmental factors may be involved – and cannot yet draw a link with taking (or not) folic acid during pregnancy. Notwithstanding this they say folic acid is known to help embryonic cells make DNA and encourage all expectant mothers to add folic acid to their diets from before conception.

Commenting on the potential causes, Principle Investigator, Dr Gabriel Galea (UCL Great Ormond Street Institute of Child Health), said: “Some environmental factors are known to increase the risk of these conditions occurring and very few affected individuals or their parents receive a meaningful genetic diagnosis. The discovery that mosaic mutations, which cause spina bifida, may not be inherited from either parent, and are not necessarily present in blood or saliva commonly used for genetic testing, may explain why.”

Genetic mutations

Genetic mutations happen in every cell throughout development. In order to grow from a fertilised egg cell into a foetus, each of our cells must replicate and divide in order to increase in number and grow. Cells must copy their DNA every time they divide, but mistakes can happen which change the DNA sequence in the daughter cells. These DNA code mistakes, called mutations, are then inherited by all cells derived from that cell. If these mutations happen in germ cells – the egg and sperm cells – they are inherited from parent to offspring. Many mutations do not happen in germ cells, but rather in cells which give rise to specific tissue types. These are known as mosaic mutations.

Experimental study approach

In humans with spina bifida a number of gene mutations have been identified, but in many cases it had not been known whether they could cause spina bifida.

In this experimental study, researchers caused a specific mutation, which inactivates a single gene called Vangl2 in mouse embryos. This gene is part of a cellular signalling pathway which tells cells which way they are facing within a tissue. Mutations in this pathway had been identified in people who have neural tube defects, and recent reports from the USA and China previously found mosaic Vangl2-pathway mutations in 15% of human foetuses with spina bifida. For the cellular signalling pathway to function normally, cells must interact with their neighbours in order to communicate directional information.

For the study, researchers induced this mutation of Vangl2 in a small proportion of cells which form the developing spinal cord of mice. This was done in a number of mouse embryos. Researchers then counted the proportion of spinal cells which harboured this mutation in those which had successfully covered their spinal cord with skin (ie had developed normally), versus those which had an exposed spinal cord (had spina bifida).

Researchers found that when the mutated Vangl2 gene was present in just 16% of developing spinal cord cells, spina bifida occurred.

They say, these results show that the cellular signalling process is surprisingly vulnerable to the uninheritable mosaic mutations. Each mutant cell stops each of its neighbouring cells from functioning to promote spinal cord development. And each cell has six neighbouring cells on average, massively amplifying the effects of each mutant cell.

Explaining the findings, Dr Galea, a Wellcome Clinical Research Career Development Fellow, said: “We found that the requirement for cells to talk to each other makes them exquisitely vulnerable to mutations in the signalling pathway that Vangl2 acts in. We now need to understand whether this vulnerability extends to other genes which could cause spina bifida. Detecting these mosaic mutations in living people will require technological advances and careful analysis of tissues resected during surgery.”

* A team from UCL, UCLH and GOSH has operated on the abnormally developed spinal cords of two babies in the womb, in a medical first for the UK (October 2018)

Image

Advanced microscopy image of the developing spinal cord, Credit: Dr Gabriel Galea

Media contact

Henry Killworth

Tel: +44 (0) 7881 833274

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Spina bifida can be caused by uninherited genetic mutations — ScienceDaily

The research, published in Nature Communications, explains for the first time how a ‘mosaic mutation’ — a mutation which is not inherited from either parent (either via sperm or egg cell) but occurs randomly during cell divisions in the developing embryo — causes spina bifida.

Spina bifida and current knowledge

Some neural tube defects can be prevented by taking folic acid supplements before and during early pregnancy, yet these conditions continue to affect around one in every thousand pregnancies globally. Researchers say they do not fully understand why mosaic mutations occur — though environmental factors may be involved — and cannot yet draw a link with taking (or not) folic acid during pregnancy. Notwithstanding this they say folic acid is known to help embryonic cells make DNA and encourage all expectant mothers to add folic acid to their diets from before conception.

Genetic mutations

Genetic mutations happen in every cell throughout development. In order to grow from a fertilised egg cell into a fetus, each of our cells must replicate and divide in order to increase in number and grow. Cells must copy their DNA every time they divide, but mistakes can happen which change the DNA sequence in the daughter cells. These DNA code mistakes, called mutations, are then inherited by all cells derived from that cell. If these mutations happen in germ cells — the egg and sperm cells — they are inherited from parent to offspring. Many mutations do not happen in germ cells, but rather in cells which give rise to specific tissue types. These are known as mosaic mutations.

Experimental study approach

In humans with spina bifida a number of gene mutations have been identified, but in many cases it had not been known whether they could cause spina bifida.

In this experimental study, researchers caused a specific mutation, which inactivates a single gene called Vangl2 in mouse embryos. This gene is part of a cellular signalling pathway which tells cells which way they are facing within a tissue. Mutations in this pathway had been identified in people who have neural tube defects, and recent reports from the USA and China previously found mosaic Vangl2¬-pathway mutations in 15% of human foetuses with spina bifida. For the cellular signalling pathway to function normally, cells must interact with their neighbours in order to communicate directional information.

For the study, researchers induced this mutation of Vangl2 in a small proportion of cells which form the developing spinal cord of mice. This was done in a number of mouse embryos. Researchers then counted the proportion of spinal cells which harboured this mutation in those which had successfully covered their spinal cord with skin (ie had developed normally), versus those which had an exposed spinal cord (had spina bifida).

Researchers found that when the mutated Vangl2 gene was present in just 16% of developing spinal cord cells, spina bifida occurred.

Explaining the findings, Dr Gabriel Galea said: “We found that the requirement for cells to talk to each other makes them exquisitely vulnerable to mutations in the signalling pathway that Vangl2 acts in. We now need to understand whether this vulnerability extends to other genes which could cause spina bifida. Detecting these mosaic mutations in living people will require technological advances and careful analysis of tissues resected during surgery.”

* A team from UCL, UCLH and GOSH has operated on the abnormally developed spinal cords of two babies in the womb, in a medical first for the UK (October 2018).

Spinal hernia in a newborn child: symptoms, treatment

Spinal hernia in newborns is a fairly rare, but very severe developmental pathology that occurs in only 0. 1-0.3% of children. And almost 2/3 of children remain chained to a wheelchair for life. Congenital spina bifida can be determined at the stage of pregnancy.

Causes of spinal hernia in newborns

Why manifestations of spinal hernia in newborns may occur is not well understood. Therefore, one can only name the factors that can influence the development of pathology, based on the opinion of leading professors of medical sciences. Risk factors include:

a pregnant woman’s lack of adequate amounts of folic acid, also known as vitamin B9, as well as other vitamins, is now recognized as the main cause of spina bifida in infants;
pregnancy intoxication;
early pregnancy;
hereditary factor.

The formation of the neural tube occurs before the eighth week of gestation, and it is at this time that one or more of the listed factors can provoke the onset of pathology. As a result of this phenomenon, one or more vertebral bodies are separated in the region of the spinous process. The membranes of the spinal cord, fluid and even nerve endings can go into such a gap.

Forms of spinal hernia in newborns

A spinal hernia in a child can be divided according to its location and structural features. Where the protrusion is located is very important, since further treatment, the complexity of the symptoms and its elimination will depend on this factor. The easiest variety is hidden splitting, when one vertebra is slightly deformed, which will not bring much discomfort to the child. If the defect is more serious, a hernial split occurs when a clearly visible protrusion is detected, which is visible under the skin. In severe cases, the spinal cord itself comes out into this protrusion. If we talk about where the spinal hernia is located in a child, we can distinguish:

cervical – the rarest, affects the upper parts of the spinal cord, innervation can occur in the neck and face, respectively, coordination is disturbed, and malfunctions of the lungs and heart occur;
chest – occurs more often in the neck, but much less often in the lumbar, and the pathology can affect the work of the arms and legs, lungs, heart, stomach, spleen, liver, etc . ;
lumbosacral – occurs most often, affects the functioning of the pelvic organs, kidneys and lower extremities.

Whatever the protrusion, the severity of the condition will be determined depending on its size.

Symptoms of spinal hernia in newborns

A photo of a spinal hernia in newborns is often found on the Internet, and almost every pregnant woman is afraid of this pathology. To determine if a newborn has such a disease, look for signs of a hernia. These include:

paralysis of limbs, disorders and nutrition, paresis;
pelvic troubles, fecal incontinence;
malfunctions of the heart, lungs, gastrointestinal tract and endocrine system.

All these symptoms may be accompanied by secondary complications, which include muscle atrophy, edema, trophic ulcers and lack of skin thermoregulation, etc.

Diagnostics

To determine the presence of the disease, the doctor collects an anamnesis of a small patient, and also conducts a complete examination of him. If there were no abnormalities during pregnancy, doctor will determine the health status of the child, taking into account his age. He will check how well the muscles are developed, whether there is any weakness, difficult muscle activity, etc. In addition, to determine the presence of the disease and the consequences of spinal hernia in newborns, you will need:

Visit neurologist .
Carry out a light scan, called transillumination, to identify the obsession of the protrusion.
Myelography with contrast – allows you to determine the damage to the spinal cord.
MRI or CT.
Visit a neurosurgeon who will determine the need for surgery and give prognosis.

Timely detection of the disease will increase the chances of a successful cure for the baby from the disease.

Treatment

The disease is usually treated with surgery. It can be performed both before and after birth.

Perinatal surgery

It can be prescribed at 19-26 weeks of gestation and is recognized as the most effective method of ridding a child of a hernia. The operation will close the anatomical anomaly in the spinal column, as a result of which the spinal cord returns to its place and is protected from influences. Among the reasons for the appearance of a spinal hernia in newborns in this case may be natural childbirth, therefore, after the operation, the woman will be delivered by caesarean section. This method allows you to ensure the most normal life for the child. Among the shortcomings of the method is that such operations, like those for premature babies, are performed only abroad. At the moment, there are only a few specialists capable of performing such an operation in Russia.

Postpartum surgery

This type of treatment is possible in the first few days after birth, then it does not make sense. Surgery will remove the growth, but there will be significant developmental problems and additional surgery may be needed. Life expectancy is affected not only by the type of hernia, but also by the presence of hydrocephalus.

Rehabilitation

Your healthcare provider will be able to tell if a baby’s spinal hernia can be treated with ozone gas, and will also determine what rehabilitation measures are needed. If we are talking about foreign clinics, then often they have sanatorium branches where doctors monitor the child’s condition after the intervention. Rehabilitation may include massages and exercise therapy.

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can the fetus be saved? — ZdorovyeInfo

Home All articles of the section “The child will be” Spinal hernia: is it possible to save the fetus?

Spinal hernia can be detected even before birth: in this case, doctors advise to terminate the pregnancy. Otherwise, most likely, the child will be born paralyzed.

Can spinal hernia be treated? What to do if this diagnosis was made during your pregnancy? We tell you everything you need to know in such cases.

What is this pathology?

This birth defect begins in the first 8 weeks of pregnancy, during the formation of the neural tube of the fetus. In a child, a segment of the spine does not grow together, and the spinal cord comes out.

What threatens such an injury?

Due to the fact that the amniotic fluid injures the organs, paralysis and hydrocephalus develop. This leads to disability: paralysis of the legs and arms, muscle atrophy, urinary and fecal incontinence.

Do these consequences happen to everyone?

No, it depends on the form of the pathology:

Latent spina bifida is a non-fusion of one vertebra without a hernia. Such an injury usually does not interfere with the normal development of the child, but will still require surgery;
Spina bifida with herniation is a severe disease that affects the spinal cord and brain. The disease leads to the most severe consequences, up to tumors (lipomas, fibromas).

Who can have such a child?

Doctors still do not know the exact causes of spinal hernias. But there are risk factors:

Hereditary genetic anomalies;
Infections during pregnancy;
Early pregnancy;
Use of alcohol, drugs prohibited during pregnancy;
Deficiency of vitamins and nutrients: especially folic acid.

How to diagnose a hernia in a fetus?

Ultrasound and test for germ protein (alpha-fetoprotein) is needed. A study of amniotic fluid can finally confirm the diagnosis: they are checked for defects in the neural tube of the fetus.

Is it possible to give birth to a healthy child with such a diagnosis?

Until recently, there was very little chance: the operation was performed in the first weeks of life, and the child often remained disabled.

However, Russian doctors – obstetrician-gynecologist and academician of the Russian Academy of Sciences Mark Kurtser and neurosurgeon Andrey Prityka have learned to operate on babies in the womb: they cut the uterus , take out the fetus, open the spinal canal, remove the hernia and sew up the skin.