FEB 17, 2020 12:25 PM PST

New Evidence: How Genomic Instability and Replication Stress Relate to Autism Spectrum Disorder

WRITTEN BY: Amanda Mikyska

Dr. Eric Courchesne of the University of California San Diego explains further consequences of DNA over-replication and macrocephaly.

Researchers at the University of California San Francisco have connected genomic instability and DNA replication stress to macrocephaly, a condition of a large head size which is common in about 30% of people with Autism Spectrum Disorder (ASD).  These findings complement previous research from 2016 which connected a high amount of double stranded breaks in neural genes to neurological dysfunction. The team’s most recent work provides additional evidence to some current theories about ASD and will add to research on other neurological disorders.  

In previous research, the researchers at Boston Children’s Hospital found a high amount double stranded breaks in neural stems cells of mice, and found these breaks to impede neurodevelopment and neural function.  

In the most recent research, the team at the University of California San Francisco was interested in examining the role of double stranded breaks in the neural stem cells from people with ASD.  Like the 2016 study, they found that double stranded breaks occur clustered in high amounts in neural genes, in people with the neurological disorder. Further experiments revealed that healthy stem cells that were promoted to replicated faster and more often, began to experience double stranded breaks clustered in neural genes.  The researchers believe that neural function genes are most affected by rushed DNA replication because these genes are much longer than most other genes. When the DNA replication process is rushed, cellular machinery that replicates DNA can bump into machinery that transcribes RNA, breaking the gene that is undergoing replication.

This study was conducted using cells from people with ASD who have a very low IQ and macrocephaly, which are not universal characteristics of ASD.  Next, the researchers want to study whether the results implicating a stressed DNA replication process and clustered double stranded breaks in neural functional genes holds in stem cells from people with a range of ASD characteristics. 

 

Sources: Wang et. al., Wei et. al., TheScientist

About the Author
  • Amanda graduated for the University of Massachusetts Boston with a degree in Biology. After working in research on creating biochemicals from genetically engineered yeast, she started freelance science writing while traveling the world. She writes about the latest research in Neuroscience, Genetics & Genomics, and Immunology. Interested in working on solutions for food/water security, sustainable fuel, and sustainable farming. Amanda is an avid skier, podcast listener, and has run two triathlons.
You May Also Like
DEC 23, 2019
Drug Discovery & Development
DEC 23, 2019
FDA Approves New Schizophrenic Drug
The US Food and Drug Administration (FDA) has approved an atypical antipsychotic Caplyta (lumateperone; Intra-Cellular Therapies) for the treating schizoph...
DEC 30, 2019
Genetics & Genomics
DEC 30, 2019
Chinese Scientists Implant Genes for Human Intelligence in Monkeys
Scientists from China and the US have implanted a human gene linked to intelligence in the genomes of macaque monkeys. The first experiment of its kind, th...
JAN 06, 2020
Cardiology
JAN 06, 2020
Online Therapy Treats Depression in Heart Disease Patients
People suffering from cardiovascular disease (CVD) often suffer from depression too- something that can lead to a vicious cycle in which CVD can be negativ...
FEB 23, 2020
Cannabis Sciences
FEB 23, 2020
Which is Better for you: CBD or THC?
Following the legalization of cannabis use, products derived from the plant are becoming more and more popular- especially those containing cannabidiol (CB...
MAR 01, 2020
Genetics & Genomics
MAR 01, 2020
Treating Huntington's Disease With a Gene Therapy That Targets Brain Cells
A new therapeutic approach for Huntington's disease may aid patients with other neurodegenerative disorders....
MAR 22, 2020
Cell & Molecular Biology
MAR 22, 2020
Capturing Images of Firing Neurons
Our bodies run on electricity. Neurons send rapidly fired electrical signals through the brain and limbs constantly, enabling us to think and move....
Loading Comments...