It seems that cholesterol and the brain is becoming a hot field. Following up on the RSRT-funded results of the Justice lab comes an intriguing (and unpublished) study highlighted by the Simons Foundation.
New autism gene plays key role in cholesterol synthesis
Mutations in a gene that plays a role in producing cholesterol in the body increase the risk for autism, pointing the way toward therapies for some people with
the disorder. The research was presented in a poster Tuesday at the Autism Consortium's 2013 Research Symposium.
Mutations in the gene, DHCR24, are known to result in a severe metabolic disease linked to cholesterol. The gene’s newly discovered role in autism suggests that statins, drugs that lower cholesterol levels, may treat symptoms of autism.
“The potential is exciting,” says Timothy Yu, a neurologist at Massachusetts General Hospital and a researcher at the Broad Institute of the Massachusetts Institute of Technology and Harvard University in Cambridge, Massachusetts.
“If you can find these kids who are swimming around in an otherwise generic autism pool and figure out a way to treat them appropriately, then you actually have the possibility of therapy.”
The researchers screened 2,000 families that have at least one child with autism to identify rare recessive gene variants for the disorder. In one family, they found that a girl diagnosed with pervasive developmental disorder-not otherwise specified and two boys diagnosed with intellectual disability and autism had all inherited two copies of the mutation, one from each parent.
“The gene is involved with the cholesterol synthesis pathway, so it started us thinking about the pathway’s role in autism and intellectual disability,” says Elaine Lim, a graduate student in Mark Daly’s lab at Harvard who presented the research.