DEC 04, 2016 4:18 PM PST

New Genetic Cause of Autism Identified

WRITTEN BY: Carmen Leitch
Researchers are still working to understand the causes of autism spectrum disorders (ASDs), which impact about one percent of all people worldwide. ASDs cause a range of problems with communication and difficulties with social interaction. New research published in Cell has found a gene underlying ASDs, a gene called SLC7A5. The following video from The National Center for Learning Disabilities describes ASDs.
 

 
"There are many different genetic mutations causing autism, and they are all very rare. This heterogeneity makes it difficult to develop effective treatments. Our analysis not only revealed a new autism-linked gene, but also identified the mechanism by which its mutation causes autism. Excitingly, mutations in other genes share the same autism-causing mechanism, indicating that we may have underscored a subgroup of ASDs,” explained lead researcher Gaia Novarino, a Professor at IST Austria.
 
"The identification of novel genes, especially in heterogeneous diseases such as autism, is difficult. However, as result of a collaborative effort, we were able to identify mutations in a gene called SLC7A5 in several patients born to consanguineous marriages and diagnosed with syndromic autism,” commented study co-author Dr. Caglayan, Chairman of the Department of Medical Genetics at the School of Medicine of Istanbul Bilim University in Turkey. The graphical abstract explaining the work is shown in the following figure.
 
Credit: Cell T?rlungeanu et al 2016
 
The SLC7A5 gene codes for a transporter protein which likely moves branched-chain amino acids (BCAAs) across the blood brain barrier, into the brain. The researchers utilized mice that lacked the SLC7A5 transporter, causing a reduction of BCAAs in the brain and subsequent impairment in the synthesis of protein production in brain cells. Those mice displayed behavioral changes such as less social interaction that are seen in animal models of autism.
 
Novarino and colleagues have previously found another gene mutation seen in patients with ASDs, epilepsy and intellectual disability. That gene functions to break down branched chain amino acids. "Of course, not all genes causing autism affect amino acid levels, and these forms of autism are unarguably very rare, but it is possible that even more autism-causing genes fall in this group," explained Novarino.
 
Intriguingly, the investigators found that some of the neurological dysfunction in the SLC7A5-deficient mice could be treated. After treating the brain with BCAAs directly for three weeks, there was an improvement in the behavioral problems seen in the mice. While such a therapy is not feasible for use in humans, it suggests that ASDs may not be untreatable.
 
"Our research found a potential treatment for certain symptoms presented in this form of ASD in mice but translation into a treatment for ASD patients will require many years of additional research," said first author Dora Tarlungeanu, a doctoral student in Gaia Novarino's group.
 
Sources: AAAS/Eurekalert! via Institute of Science and Technology Austria, Cell
 
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
MAY 03, 2021
Health & Medicine
The Challenges and Advantages of Direct PCR Amplification
MAY 03, 2021
The Challenges and Advantages of Direct PCR Amplification
  Testing for COVID-19 continues to be one of the most important tools in the global fight to slow and reduce the i ...
MAY 17, 2021
Cell & Molecular Biology
Survey Results: Where Is Pluripotent Stem Cell Research Now?
MAY 17, 2021
Survey Results: Where Is Pluripotent Stem Cell Research Now?
Human pluripotent stem cell (hPSC) lines are now commonly used across the globe. In the lab, researchers rely on hPSCs t ...
MAY 12, 2021
Cardiology
Reversing the Heart Damage Seen in Marfan Syndrome
MAY 12, 2021
Reversing the Heart Damage Seen in Marfan Syndrome
Marfan syndrome is a genetic disorder that disrupts the connective tissues that anchor and link the body's organs, affec ...
JUN 02, 2021
Cell & Molecular Biology
Methylation Affects the 3D Structure of the Genome
JUN 02, 2021
Methylation Affects the 3D Structure of the Genome
Gene activity has to be carefully controlled by cells so that they maintain their identity and continue to carry out the ...
JUN 04, 2021
Clinical & Molecular DX
Tiny Bone Marrow Models Help Tailor Treatments for Platelet Disorder Patients
JUN 04, 2021
Tiny Bone Marrow Models Help Tailor Treatments for Platelet Disorder Patients
  Scientists have developed miniaturized 3-dimensional bone marrow models that could help physicians to predict whi ...
JUN 11, 2021
Cell & Molecular Biology
Bad Fat in the Tumor Microenvironment May Disrupt Killer T Cells
JUN 11, 2021
Bad Fat in the Tumor Microenvironment May Disrupt Killer T Cells
The immune system can detect and destroy pathogenic and cancerous cells, but sometimes those dangerous cells can evade t ...
Loading Comments...