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Genetics of Autism: From Chromosomes to Mitochondria – Dmitriy Niyazov, MD



There is a substantial body of evidence that genetics plays a significant role in etiology of autism. A wide variety of genetic causes contribute to autism including chromosomal and single-gene disorders as well as metabolic and in particular mitochondrial diseases. The latter play a significant role in etiology of autism since patients with mitochondrial disease/dysfunction are at a higher risk of having autism while the reverse has also been established by several studies as well as our personal experience. Our center is dedicated to evaluating and treating children and adults with autism as well as providing prenatal counseling on risks of recurrence. We share our experience of working with autistic patients with previously unknown diagnoses. We have discovered various genetic defects that have been directly implicated in pathophysiology giving rise to autism in these patients. One example is a pair of siblings who had a chromosome 2 deletion disrupting NRXN1 encoding neurexin which is important in neuronal interaction. Another example is an autistic boy who we found to have mitochondrial complex I deficiency and after intensive treatment including nutrition, exercise and vitamin cocktail, he lost his autism diagnosis 4 months after initiating the therapy. We also show videos and developmental evaluations of autistic children before and after treatment showing a significant improvement in their developmental skills. We demonstrate how correct diagnosis can make a real difference in evaluation and treatment of patients with autism as well as prevention of potential complications and counseling on recurrence risks.

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