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Depleting excess levels of a molecule involved in neuronal signaling prevents the cognitive and motor symptoms of Angelman syndrome in a mouse model of the disorder, according to a report published 15 August in Cell Reports.
The genes involved in Rett and Angelman syndromes may collaborate to regulate the expression of other proteins, according to a study published 19 July in Biochemical and Biophysical Research Communications. This may explain the overlap in symptoms between the two disorders, the researchers say.
Epigenetics, or the chemical markings on DNA that affect gene expression, plays a role in some cases of autism, according to a study of 50 identical twins published 23 April in Molecular Psychiatry.
A candidate drug for Angelman syndrome shows promise in activating the gene silenced in people with the disorder, and only that gene. Why doesn’t it unsilence other genes?
Two weeks of treatment with a cancer drug called topotecan boosts expression for a year of the gene that’s deficient in Angelman syndrome, according to unpublished mouse research presented 20 March at the New York Academy of Sciences.
Children who carry an extra copy of the 15q11-13 region of the genome usually have autism and sleep troubles, as well as distinctive brain-wave patterns and facial features, according to a report published 14 March in Autism Research.
Mitochondrial deficits may account for the range of symptoms and neurological deficits seen in autism and explain why it preferentially affects boys, says Douglas Wallace.