The protein missing in people with fragile X syndrome regulates the activity of more than 800 other proteins, including some key players in autism, according to a study published 22 July in Cell. Many of these autism-associated proteins cluster on either side of the synapse, the junction between neurons.
Small fragments of RNA, called microRNAs, can fine-tune the levels of proteins at the junctions between neurons in response to cell signals, according to a study published 10 June in Molecular Cell.
Blocking a chemical messenger — a much-touted approach to treating fragile X syndrome — is unlikely to completely reverse symptoms of the disorder, according to a provocative new study. The results, published in May in Behavioural Brain Research, show only modest behavioral improvements with the approach.
Women with a mild version of primary ovarian insufficiency, a disorder that mimics the symptoms of menopause, should be tested for a mutation that can lead to fragile X syndrome, according to a study published 15 June in Human Reproduction.
Several targeted trials on drugs that treat fragile X syndrome are under way. But accurate endpoints to measure the drugs’ effectiveness are crucial, argues developmental and behavioral pediatrician Randi Hagerman.
MeCP2, the protein that’s missing or mutated in Rett syndrome, is crucial for remodeling neural circuits in response to vision, according to a study published in April in Neuron.
The First International Phelan-McDermid Syndrome Symposium, held last week in New York City, brought together scientists and patient advocates to share insights — including a surprising realization about mice missing the SHANK3 gene.
Several new studies challenge the ‘broken mirror’ hypothesis of autism, which suggests that defects in specialized brain cells called mirror neurons explain why people with the disorder find social interaction difficult.
Six strains of mice lacking a gene associated with fragile X syndrome show radically different behaviors though they share the same mutation, researchers reported in January in Autism Research.
A partial mutation that leads to a milder form of fragile X syndrome causes deficits in learning and memory in mice, and alters the connections between their neurons, according to a study published in January in Neurobiology of Disease.