Technology News |  Links between genetic factors in autism spectrum disorder identified by researchers

Technology News | Links between genetic factors in autism spectrum disorder identified by researchers

Washington [US] 22 (ANI): In a new study, researchers have identified previously unknown links between genetic factors in autism spectrum disorder (ASD).

The findings, from the Donald K. Johnson Eye Institute (DKJEI), part of the Krempel Research Institute at the University Health Network, are published in Cell Reports.

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This neurodevelopmental disorder is associated with a wide range of physiological and behavioral symptoms, including impairments in communication, cognition, and motor function, as well as seizures and hyperactivity.

ASD, which affects about one in 50 Canadians between the ages of 1-17, has been linked to hundreds of risk genes that can play a role in the development of the disease.

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“We still don’t know how different genetic risk factors lead to ASD, whether they act independently or through similar molecular pathways to cause the condition. We also don’t know when, or even where, in the brain these genes are expressed and caused by the cellular defects that lead to to ASD. Do the defects occur during fetal development, after the baby is born, or at some point later in life?” says Dr. Karun Singh, a senior scientist at DKJEI.

“Our goal with this study was to elucidate the roles of specific risk genes in ASD, and whether different genes converge on common pathways that regulate cell functions, such as energy production and metabolism.”

Most risk genes for autism spectrum disorder produce proteins that are involved in important cellular functions. In this study, the research team used a protein-mapping tool to study 41 risk genes associated with autism, many of which were not previously known to interact with each other.

One of the team’s key findings was that several risk genes modulate the activity of mitochondria, the energy factories inside cells. Because brain cells are very metabolically active, disturbances in their mitochondrial function can affect brain function.

“The association between ASD risk genes and mitochondrial dysfunction sheds light on how mutations in these genes may alter brain cell activity and ultimately cause symptoms of the disease,” says Dr. Nadeem Mortaza, a postdoctoral researcher in Dr. Singh’s lab.

The study also revealed that a protein-based mapping tool could be used to help classify individuals with autism who have a common biological signature. Because ASD is a highly variable disorder, grouping individuals based on the biological factors underlying their symptoms could help researchers develop more personalized treatments in the future.

“There is a lot of opportunity for a change between the level of genetic sequence, which we deal with very well, and what actually appears in the patient,” adds Dr. Mortada.

“People who have different forms of a genetic disorder may be more related than we think on a biological level,” says Dr. Mortada.

The protein mapping technique used in this study has the potential to improve our understanding of brain function, and can be applied to many other brain diseases.

The next step is to apply the technology to a patient’s own brain tissue created in Dr. Singh’s lab, where stem cells from the patient’s blood are developed into 3D brain tissue that shows the unique gene and protein profiles of that patient.

“This will enable us to study patient-specific disease mechanisms and, ultimately, test the effectiveness of different therapies,” says Dr. Singh.

“This innovative approach will open the door to wider use of these technologies and their application to other diseases as well,” he adds. “Working with colleagues here at Krembil, with programs covering a wide range of neurodegeneration, arthritis and vision-related disorders, is a great way to take advantage of this technology and our current findings.” Favorite

(This is an unedited story automatically generated from the syndicated news feed, staff may not have edited or edited the content content)


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