The latest issue of Science Translational Medicine reports an article describing the target sequencing of the mitochondrial DNA and exons of 1037 nuclear genes encoding mitochondrial proteins in 42 unrelated infants with clinical and biochemical evidence of mitochondrial oxidative phosphorylation disease. 10 patients had mutations in genes previously linked to disease while 13 had mutations in nuclear genes not previously linked to disease. The pathogenicity of two such genes, NDUFB3 and AGK, was supported by complementation studies and evidence from multiple patient. For the other half of the patients studied, the genetic mutations causing mitochondrial disorders remain unknown.The study has been carried out by several groups at the Broad Institute, Massachusetts General Hospital, and elsewhere. The team will apply the same technique in adults who develop the disease later in life. Researchers estimate that mutations in more than 200 different mitochondrial genes could give rise to mitochondrial diseases, but to date, only about 100 of these disease genes have been identified.
Sci Transl Med 25 January 2012: Vol. 4, Issue 118, 118ra10
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