About My Health Careers Internship MedBlogs Contact us
Medindia LOGIN REGISTER
Advertisement

Protein's Role in Brain Development Elaborated by Rare Gene Mutation

by Kathy Jones on October 20, 2013 at 2:14 PM
Font : A-A+

 Protein's Role in Brain Development Elaborated by Rare Gene Mutation

Four unrelated families have been united in a medical mystery over the source of a rare inherited disorder, a new report says. The latter results in their children being born with abnormal brain growth and severe functional impairments.

An international team of scientists, led by genetic researchers at Duke Medicine, has solved the case by identifying a recessive gene mutation that reduces the abundance of a certain protein that previously had not been known to affect brain development.

Advertisement

The gene mutation causes a defect in the body's synthesis of a nutrient called asparagine, which is found in meat, dairy and nuts, among other foods. Long considered a "non-essential" amino acid, asparagine synthesis may actually be crucial for normal brain development and function.

The findings appear in the Oct. 16, 2013, issue of the journal Neuron.

"This non-essential amino acid has different levels inside and outside the central nervous system, and it may be that in the central nervous system, it plays a critical role," said lead author David B. Goldstein, Ph.D., director of the Center for Human Genome Variation and professor of Molecular Genetics & Microbiology and professor of biology at Duke University School of Medicine. "What is exciting about this is if we can work out how it functions, a treatment might be asparagine supplementation in the diet."
Advertisement

Goldstein said the work on the rare disorder was launched after two separate families in Israel, both of Iranian Jewish ancestry, had children with similar impairments - small head circumference that grows progressively worse, accompanied by profound developmental delays and seizures.

Deducting that the families' ethnic heritage might help focus the gene quest, Goldstein and colleagues looked for gene variants that were shared by the two affected children from one of the families, but were uncommon in the general population. Of 72 such variants, three were absent in the larger population.

Of those three variants, one was also present in the child of the other family from Israel. This mutation was located in the asparagine synthetase gene, or ASNS, which controls the production of the metabolite asparagine from other amino acids.

Meanwhile, two other families - both in Canada - had children who were born with similar problems, and scientists there conducted analyses that pointed to mutations in the same ASNS genes.

In combining the cases, the researchers discovered that each of the parents in these four families shared a rare recessive trait that, by chance, combined to result in a newly identified disorder in their children. More cases are likely to come to light now that the gene mutation has been identified.

Goldstein said other similar deficiencies in amino acids synthesization - all causing neurological problems - have recently been identified. These conditions have shown improvement with the use of dietary supplements, suggesting that the impairments caused by the ASNS mutation might benefit from asparagine supplementation.

"An emerging theme is that with these 'non-essential' amino acids, their metabolism does matter," Goldstein said. "This metabolic pathway is important, and it may be that the amount of asparagine is the key, or a buildup of toxin in that pathway caused by the mutation."

Goldstein said future research in mice bred to have a similar disorder could prove enlightening. Already, he said, experiments have shown that mice with ASNS mutations have a less severe form of the disorder, perhaps because they have higher levels of asparagine in their bloodstream. That insight, he said, adds hope to the prospect that dietary supplementation might diminish the impact of the mutation.

"We can now use these mice to investigate the appropriate quantities and timing of the asparagine dietary supplementation," said lead author Elizabeth Ruzzo. "Given that this is a developmental disorder it is possible that adjusting the mother's diet before she is even pregnant will be most effective."



Source: Eurekalert
Advertisement

Advertisement
News A-Z
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
News Category
What's New on Medindia
First-Ever Successful Pig-To-Human Kidney Transplantation
World Osteoporosis Day 2021 -
Spirituality and Mental Health
View all

Medindia Newsletters Subscribe to our Free Newsletters!
Terms & Conditions and Privacy Policy.

More News on:
DNA Finger Printing Parkinsons Disease Parkinsons Disease Surgical Treatment Brain Brain Facts Ataxia McArdle Disease Weaver Syndrome Nutrition and Cognitive Development in Young Children Language Areas in The Brain 

Recommended Reading
Genetic Testing of Diseases
Genetic testing helps to confirm a genetic condition in an individual and involves q complex ......
Epigenetics
In the recent years 'epigenetics' represents inheritable changes in gene expression that do not ......
Birth Defect - Genetic
Achondroplasia is a genetic disorder which is one of the leading causes of dwarfism ...
Ataxia
Ataxia affects coordination. Gait becomes unstable and the patient loses balance. The cerebellum or ...
DNA Finger Printing
DNA fingerprinting is a technique which helps forensic scientists and legal experts solve crimes, id...
Language Areas in The Brain
The mechanism of how human brain processes the language to express and comprehend the verbal, writte...
McArdle Disease
McArdle disease is a genetic disorder in which the body cannot breakdown glycogen in the muscles. It...
Nutrition and Cognitive Development in Young Children
Nutrition plays an important role in cognitive development of children. Various mental assessment sc...
Parkinsons Disease
Parkinson’s disease is a neurodegenerative disease caused by progressive dopamine brain cells loss. ...
Weaver Syndrome
Weaver syndrome is a genetic disorder in which children show accelerated bone growth, advanced bone ...

Disclaimer - All information and content on this site are for information and educational purposes only. The information should not be used for either diagnosis or treatment or both for any health related problem or disease. Always seek the advice of a qualified physician for medical diagnosis and treatment. Full Disclaimer

© All Rights Reserved 1997 - 2021

This site uses cookies to deliver our services. By using our site, you acknowledge that you have read and understand our Cookie Policy, Privacy Policy, and our Terms of Use