APR 15, 2018 08:41 AM PDT

Gene Mutation Associated with Intellectual Dysfunction ID'ed

WRITTEN BY: Carmen Leitch

Researchers led by Assistant Professor Gholson Lyon at Cold Spring Harbor Laboratory (CSHL) have revealed a previously unknown genetic mutation that is correlated with a variety of disorders including developmental delay, autism spectrum disorder, intellectual disabilities, congenital cardiac anomalies and abnormal facial features. The mutation is related to one which underlies Ogden syndrome, a severe disease that can run in families and includes many of those symptoms. The study is described in the video.

Lyon and colleagues discovered Ogden syndrome, finding it in two generations of a family with five affected boys. All of the affected individuals died by the age of three. Ogden syndrome is an X-linked condition - only affecting males - and is caused by an error in the NAA10 gene.

Since then, Lyon and his team have been gathering data on people that carry mutations in another related gene, NAA15. That gene codes for a protein that functions in the cell along with the NAA10 protein to modify other proteins, in a mechanism termed NatA-mediated N-terminal acetylation.

While working with clinical geneticist Wendy Chung at Columbia University, Lyon was introduced to a case in which a boy carried a mutation in NAA15; the boy had a variety of problems including developmental delays, intellectual disability, and congenital heart defects. 

The researchers have gone on to get referrals from clinics around the globe, identifying 37 people in 32 families that harbor mutations in the NAA15 gene. The NAA15 gene is not on the X chromosome, so the group includes people of both sexes.

“Trying to prove the relevance of any mutation in a gene requires a large number of samples,” Lyon said. “As a result, we’re seeing the field of human genetics move more toward this type of large-scale collaboration.” 

While many diseases have been linked to gene mutations, there are still rare disorders waiting to be discovered. / Image credit: Pixabay

This research could hold promise for the future, he suggested. “As the price of genetic sequencing drops and more people are sequenced, we may be able to provide individuals with such mutations with more education and services in early life which could lead to better overall functioning.”

Lyon added that there are many rare mutations like NAA15, which cause disease and are awaiting discovery. “Instead of lumping many diseases together under very broad categories like ‘intellectual disability’ or ‘autism,’ the human genetics community is now splitting these into much finer entities so that we can begin to do natural history studies, much like what has been done with Fragile X syndrome,” he explained. An example is the progression of our understanding of Fragile X, after extensive analysis of FMRP gene mutations that have been linked to that disease.

 


Sources: CSHL

About the Author
  • Experienced research scientist and technical expert with authorships on 28 peer-reviewed publications, traveler to over 60 countries, published photographer and internationally-exhibited painter, volunteer trained in disaster-response, CPR and DV counseling.
You May Also Like
NOV 23, 2018
Microbiology
NOV 23, 2018
Researchers Surprised to Find Giant Viruses in Forest Soil
Viruses were thought of as tiny infectious agents for the most part, until researchers began to discover more and more giant viruses....
NOV 24, 2018
Microbiology
NOV 24, 2018
More Bacteria Found on the ISS, Researchers Stress Continued Monitoring
A check of the International Space Station (ISS) has revealed several strains of Enterobacter microbes....
NOV 27, 2018
Cell & Molecular Biology
NOV 27, 2018
Why Screens can Interfere With Sleep
Most of us spend a lot of time looking at some type of screen, whether it's a laptop, a phone, or another device....
DEC 01, 2018
Videos
DEC 01, 2018
Identifying Disease-causing Gene Mutations
Genetic diseases can be traced back to an error in a gene. This video explores how the process works....
DEC 03, 2018
Neuroscience
DEC 03, 2018
Genes Involved In Dementia Identified
Genetic factors have also been recognized as a critical contributor for dementia and identifying these genes will eventually allow for gene-specific therapeutics to be developed. Although sci...
DEC 22, 2018
Technology
DEC 22, 2018
A Dynamic DNA Origami Technique
It was not a while back ago when researchers developed a unique technique known as ‘DNA origami’ to produce tiles that could be self-assembled ...
Loading Comments...