APR 15, 2018 8:41 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 over 30 peer-reviewed publications, traveler to over 70 countries, published photographer and internationally-exhibited painter, volunteer trained in disaster-response, CPR and DV counseling.
You May Also Like
SEP 06, 2020
Cell & Molecular Biology
The Beginnings of a Protein Are Captured in 3D
SEP 06, 2020
The Beginnings of a Protein Are Captured in 3D
There are many genes in the DNA that gives rise to an organism, and genes that code for protein are a critical part of t ...
SEP 20, 2020
Genetics & Genomics
Errors in the Nuclear Envelope Linked to Microcephaly
SEP 20, 2020
Errors in the Nuclear Envelope Linked to Microcephaly
Researchers have found that errors in a gene called LMNB1, which produces the lamin B1 protein, have devastating effects ...
OCT 05, 2020
Genetics & Genomics
A Rare Form of Dementia is Discovered
OCT 05, 2020
A Rare Form of Dementia is Discovered
There are different types of dementia, a term for a loss of cognitive function, including Alzheimer's disease and Le ...
OCT 07, 2020
Genetics & Genomics
Researchers Confirm Cerebral Palsy Has a Genetic Component
OCT 07, 2020
Researchers Confirm Cerebral Palsy Has a Genetic Component
Scientists have confirmed previous studies that have suggested that some cases of cerebral palsy are due to a genetic mu ...
OCT 24, 2020
Immunology
New CRISPR-Based Imaging Tool Is Going to Be HiUGE
OCT 24, 2020
New CRISPR-Based Imaging Tool Is Going to Be HiUGE
A team of researchers at Duke University have developed an imaging technology for tagging structures at a cellular level ...
NOV 16, 2020
Genetics & Genomics
Hidden Genes in the SARS-CoV-2 Genome
NOV 16, 2020
Hidden Genes in the SARS-CoV-2 Genome
It's essential for organisms to use their genomes to make proteins, and the processes of transcription and translation a ...
Loading Comments...