A Cornell University study reveals that mitochondrial DNA variation can be a possible cause of autism spectrum disorder. The finding, which is published in the journal PLOS Genetics, suggests that more research is needed to better understand the contribution of mutations in mitochondrial DNA to the pathogenesis of autism spectrum disorder. Autism spectrum disorder (ASD) refers to a group of neurodevelopmental disorders that usually begin early in childhood and last a lifetime. Patients with ASD often have problems with social interaction, communication and flexible behavior. According to the?Centers for Disease Control and Prevention (CDC)??about 1.47% of children in the United States suffer from ASD. Earlier studies have reported that mitochondrial dysfunction may be implicated in ASD. Some scientists assume that the genetic variation in the mitochondrial DNA (mtDNA) sequence may be associated with ASD. However, the molecular basis underlying this connection has not been extensively studied. The new study, led by Zhenglong Gu at Cornell University, has demonstrated that kids with ASD carry more harmful mutations in mtDNA compared with their family members, adding to evidence that malfunctions in mitochondria can cause ASD. The findings could help diagnose and treat ASD. In the study, lead researcher Zhenglong Gu and colleagues investigated 903 kids with ASD and their unaffected siblings and mothers. Analysis of the mtDNA sequence showed a special pattern of heteroplasmic mutations, meaning that a cell contains both normal and mutant mtDNA sequences. The researchers found that ASD children had much more bad mutations than their siblings, and some of these bad mutations could impact the resulting protein. In addition, the study showed that these pathogenic mtDNA mutations appeared to be associated with lower IQ. CusAb offers many different kinds of antibodies such as mouse polyclonal antibody. Collectively, the results reveals that the accumulation of mtDNA mutations of high pathogenic potential during development may contribute to metabolic pathophysiology of ASD. Individuals with ASD respond differently to current treatments. Understanding the exact cause of ASD is of great importance.
