Public release date: 8-May-2013 [ | E-mail | Share ] Contact: Sue McGreevey smcgreevey@partners.org 617-724-2764 Massachusetts General Hospital Researchers from Massachusetts General Hospital (MGH) and Duke University have identified genetic mutations that appear to underlie a rare but devastating syndrome combining reproductive failure with cerebellar ataxia a lack of muscle coordination and dementia. In a paper that will appear in the May 23 New England Journal of Medicine and is receiving early online release, the investigators describe finding mutations in one or both of two genes involved in a cellular process called ubiquitination in affected members of five unrelated families. "This study highlights, for the first time, the importance of the ubiquitin system in a syndrome characterized by ataxia and hypogonadotropic hypogonadism reproductive failure due to abnormal signaling from the brain or pituitary gland," says Stephanie Seminara, MD, of the Reproductive Endocrine Unit in the MGH Department of Medicine, co-senior author of the report. "It also demonstrates how combining robust genomics with detailed functional assays can unlock complex genetic architecture." Caused by lesions in the part of the brain responsible for coordination and balance, cerebellar ataxia can begin with difficulty walking or speaking and progress to complete disability of those … Continue reading
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