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Dna Mutation

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Rare Gene Mutation Causes Rapid Infant Fat Loss in Siblings

Originally Published 2 years ago — by Livescience.com

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Source: Livescience.com

Two siblings experienced rapid loss of body fat in infancy due to a newly described DNA mutation associated with congenital generalized lipodystrophy (CGL), a rare disorder that affects 1 in 10 million people worldwide. The siblings have a subtype of CGL known as type 4, which involves a gene mutation on chromosome 17 that codes for cavin-1, a protein important for fat storage. The inability to store fat in fat cells leads to fat buildup in other parts of the body, such as the muscles, liver, and bloodstream. The siblings face various health risks associated with CGL, including complications of diabetes, liver or heart disease, and irregular heartbeat.