Genomics

Screening will facilitate definition of disease-related mutations in human mtDNA

Published in Cancer Weekly, January 4th, 2005

A recent report provided a sequence analysis of the complete mitochondrial genome in patients with mitochondrial encephaloneuromyopathies lacking the common pathogenic DNA mutations.

According to the report from Italy, "The purpose of [our] study was to identify novel mitochondrial deoxyribonucleic acid (mtDNA) mutations in a series of patients with clinical and/or morphological features of mitochondrial dysfunction, but still no genetic diagnosis. A heterogeneous group of clinical disorders is caused by mutations in mtDNA that damage respiratory chain function of cell energy production. We developed a method to systematically screen the entire mitochondrial genome. The...

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Source: Cancer Weekly (2005-01-04)

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