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Abbravation: Journal of Human Genetics

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Nature Publishing Group

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10.1016/0030-4220(80)90307-2

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1435-232X

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Mitochondrial DNA mutations in Leigh syndrome and

Authors: Michiko Makino Satoshi Horai Yuichi Goto Ikuya Nonaka
Publish Date: 2000/03
Volume: 45, Issue: 2, Pages: 69-
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Abstract

Thank you for visiting naturecom You are using a browser version with limited support for CSS To obtain the best experience we recommend you use a more up to date browser or turn off compatibility mode in Internet Explorer In the meantime to ensure continued support we are displaying the site without styles and JavaScriptOf 100 patients with the clinical diagnosis of Leigh syndrome 21 were found to have specific enzyme defects 15 involving cytochrome c oxidase COX 4 pyruvate dehydrogenase complex PDHC one complex I reduced nicotinamide adenine dinucleotide NADHcoenzyme Q reductase and one complex II succinateubiquinone reductase deficiencies In addition to the most common form of COX deficiency mtDNA mutations in the adenosine triphosphatase ATPase 6 coding region were also commonly seen Eighteen patients 18 had mtDNA mutations at nucleotide position np 8993 or 9176 The mutated DNAs were present in a heteroplasmic state comprising more than 90 of the DNA in muscle and/or blood samples from all patients Patients with the TtoG mutation at np 8993 usually had early onset of the disease with rapid progression showing the typical clinical features of Leigh syndrome On the other hand those with the TtoC 8993 mutation showed a milder and more chronic course Patients with the mutation at np 9176 showed variable courses Phylogenetic analysis of mtDNA Dloop sequences for the patients with the ATPase 6 mutations and normal Japanese subjects revealed that a TtoG/C mutation at np 8993 and a TtoC mutation at np 9176 occurred many times independently in the Japanese population

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