Scientists Find an Array of Genes That May Lead to Precision Therapies for Various Types of Autism

According to an article in the publication Labroots, autism spectrum disorder (ASD) may be the result of interaction between environmental and genetic factors. For instance, researchers point out that ASD has been associated with hundreds of genetic differences that may increase a person’s risk of the disease.

They have found that ASD occurs more frequently in people with Down syndrome or fragile X syndrome and in children whose parents are older than the average child-bearing age.

A Step Forward

A recent discovery of a group of genes that control brain development and cholesterol metabolism has been associated with a sub-type of autism.

These findings may lead to the creation of precision therapies and diagnostic tools for several types of autism.

Isaac Kohane, a senior investigator in the Biomedical Informatics Department of Harvard, explained that precision medicine involves recognizing the basic dysfunction in every sub-type.

A Massive Undertaking

Co-author Yuan Luo of MIT commented that the researchers integrated various data so they would have the most comprehensive view of the genes associated with autism.

Researchers used two databases. The first database contained the medical records of more than thirty-four million patients from medical facilities throughout the U.S. These records involved over 80,700 ASD patients.

A second database contained 2.7 million people, and out of this enormous group 25,000 were children who had been diagnosed with autism.

The researchers included data on levels of lipids such as LDL (bad cholesterol), HDL (good cholesterol), and triglycerides.

A Clear Link

The researchers found a definite link between ASD and abnormal lipid levels.

Upon extensive analysis, tests of autistic people were twice as likely to show abnormal lipids when compared to people who did not have the disease.

Another development involved sleep problems, attention deficit disorder, and epilepsy whereby researchers suggest that abnormal lipids (dyslipidermia) may cause a disruption in neurodevelopment.

Other related findings involved metabolic and hormonal disorders such as hypothyroidism, vitamin D deficiency, and anemia.

Related Diseases

Rett syndrome is associated with autism. The study shows that people who have been diagnosed with Rett present a mutated cholesterol metabolism gene.

One other disorder surfaced during the study. It is a cholesterol synthesis disease named Smith-Lemli-Opitz syndrome. Fifty to eighty percent of people with the disease are also autistic.

The authors of the study suggest that their findings may solve the unknown elements of these very complicated disorders. The investigators found that autistic children generally experience gastrointestinal disorders indicating an association between metabolism and ASD.

Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia four years ago. He was treated with a methylating agent While he was being treated with a hypomethylating agent, Rose researched investigational drugs being developed to treat relapsed/refractory AML.

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