Autism risk mutations inactivate this gene and, in the absence of their own ability to produce carnitine and without adequate outside supplementation, neural stem cells become less efficient at self - renewal.
Not exact matches
Previous studies have shown that inherited
mutations in a gene (called TMLHE) that is required for carnitine biosynthesis are strongly associated with
risk for development of
autism - spectrum disorders, but the basis for that association has been unclear — until now.
Page and his colleagues, who use animal models to understand how
autism risk factors impact the developing brain and to identify potential treatments for the condition, have found that animals with
mutations in the
autism risk gene phosphatase and tensin homolog (Pten) mimic aspects of
autism, including increased brain size, social deficits and increased repetitive behavior.
Based on the authors» previous discoveries, it is known that de novo
mutations contribute to
risk, particularly in sporadic cases where there is no family history of
autism.
This specific spontaneous
mutation, which we found in a sufficient number of cases, announced itself as an
autism risk factor.»
New research suggests evolution is favoring the disorder: A study in PLOS Genetics says certain genetic
mutations that are associated with an increased
risk of
autism were passed on during evolution because they are also associated with improved cognitive abilities.
This approach has identified genes that are relevant to for example
autism, as well as individual
mutations that substantially increase or decrease the
risk for e.g. cardiovascular disease.
Factors associated with a higher
risk of
autism include having parents older than 30, maternal illness during pregnancy, genetic
mutations, birth before 37 weeks» gestation and a multiple birth.