International study validates less invasive approach to diagnosing mitochondrial disease
Researchers at Children's Hospital Colorado (Children's Colorado) and the University of Colorado Anschutz School of Medicine have published one of the largest studies to date evaluating advanced laboratory testing for mitochondrial disease, providing new evidence that a small skin biopsy can often help diagnose these rare and complex conditions without the need for more invasive procedures.
Researchers at Children's Hospital Colorado and the University of Colorado Anschutz School of Medicine have found that a small skin biopsy can often diagnose mitochondrial disease without invasive procedures. The study, published in EMBO Molecular Medicine, is one of the largest evaluations of functional diagnostic tests for these rare and complex genetic disorders.
Mitochondrial diseases affect about 1 in 5,000 people and can impact multiple organs. While genetic testing has improved diagnosis, many patients still receive inconclusive results. The research found that fibroblasts grown from skin biopsies can often provide diagnostic information instead of requiring muscle or liver biopsies. This advance could make diagnosis more accessible for patients and families.
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