Journal
JOURNAL OF THE NEUROLOGICAL SCIENCES
Volume 267, Issue 1-2, Pages 137-141Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.jns.2007.10.019
Keywords
COX II; mitochondria DNA depletion; muscle; muscle fibers; respiratory chain; TK2
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Funding
- NICHD NIH HHS [R01 HD056103, P01 HD032062] Funding Source: Medline
- NINDS NIH HHS [P01 NS011766] Funding Source: Medline
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A 12-year-old patient with mitochondrial DNA (mtDNA) depletion syndrome due to TK2 gene mutations has been evaluated serially over the last 10 years. We observed progressive muscle atrophy with selective loss of type 2 muscle fibers and, despite severe depletion of mtDNA, normal activities of respiratory chain (RC) complexes and levels of COX It mitochondrial protein in the remaining muscle fibers. These results indicate that compensatory mechanisms account for the slow progression of the disease. Identification of factors that ameliorate mtDNA depletion may reveal new therapeutic targets for these devastating disorders. (C) 2007 Elsevier B.V. All rights reserved.
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