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2. Two novel cosegregating mutations in tRNAMet and COX III, in a patient with exercise intolerance and autoimmune polyendocrinopathy

Author

Bortot, B., Barbi, E., Biffi, S., Angelini, C., Faleschini, E., Severini, G.M., and Carrozzi, M.

Subjects
*TRANSFER RNA, *GENETIC mutation, *AUTOIMMUNE diseases, *ENDOCRINE diseases, *BIOPSY, *MITOCHONDRIAL DNA, *FIBERS, *PATIENTS
Abstract

Abstract: We report a 12-year-old patient with growth retardation, exercise intolerance, lactic acidosis (increasing after exercise) and autoimmune polyendocrinopathy type 2. Muscle biopsy shows abundant COX-negative fibers, subsarcolemmal mitochondrial aggregates and markedly reduced activities of all respiratory chain complexes. Genetic analysis identified two new cosegregating mutations in Met-tRNA (m.4415A>G) and Cox III (m.9922A>C), located in highly conserved regions of MtDNA. Both the mutations are heteroplasmics in multiple patients’ tissues. Single-muscle fiber analysis showed significantly higher levels of both the mutations in COX-negative than in normal fibers. In addition, a possible link between the mitochondrial dysfunction and the autoimmune disease is suggested. [Copyright &y& Elsevier]

Published
2009
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