Scientists discover a new genetic form of ALS in children

Scientists discover a new genetic form of ALS in children

Scientists discover a new genetic form of ALS in childrenNIH- and USU- led study links ALS to a fat manufacturing gene and maps out a genetic therapyIn a study of 11 medical-mystery patients, an international team of researchers led by scientists at the National Institutes of Health and the Uniformed Services University (USU) discovered a new and unique form of amyotrophic lateral sclerosis (ALS). Together they not only found clues as to how variations in the SPLTC1 gene lead to ALS but also developed a strategy for counteracting these problems. This suggested that the ALS mutations enhanced SPT activity. Based on their results, the authors of this study recommended avoiding serine supplementation when treating the ALS patients. “Our results suggest that these ALS patients are essentially living without a brake on SPT activity.

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