New Gene Associated With Mitochondrial Disease Adds to Diagnostic Capability, Baylor College of Medicine Study

Published: Nov 01, 2013

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The mitochondria are the powerhouses of the cell, converting energy into usable forms. When a child is born with a gene defect that results in dysfunctional mitochondria, the results can be devastating, causing physical and cognitive disability and often death. Using genome-wide sequencing along with personalized functional genomics, researchers led by those at Baylor College of Medicine have identified mutations in a gene called FBXL4 revealing it as a novel cause of primary mitochondrial disease, a finding that may speed diagnosis in other families. A report on their work appears online today in the American Journal of Human Genetics.

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