Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

S. Ogasahara, Andrew G Engel, D. Frens, D. Mack

Research output: Contribution to journalArticle

294 Citations (Scopus)

Abstract

The electron transport system of muscle mitochondria was examined in a familial syndrome of lactacidemia, mitochondrial myopathy, and encephalopathy. The propositus, a 14-year-old female, and her 12-year-old sister had suffered from progressive muscle weakness, abnormal fatigability, and central nervous system dysfunction since early childhood. In the propositus, the state 3 respiratory rate of muscle mitochondria with NADH-linked substrates and with succinate was markedly reduced. The levels of cytochromes a + a 3, b and c + c 1 were normal. The activities of complexes I, II, III, and IV of the electron transport chain were normal or increased. By contrast, the activities of complex I-III and of complex II-III, both of which need coenzyme Q 10 (CoQ 10), were abnormally low. On direct measurement, the mitochondrial CoQ 10 content was 3.7% of the mean value observed in 10 controls. Serum and cultured fibroblasts of the propositus had normal CoQ 10 contents. In the younger sister, the respiratory activities and CoQ 10 level of muscle mitochondria were similar to those observed in the propositus. The findings establish CoQ 10 deficiency as a cause of a familial mitochondrial cytopathy and suggest that the disease results from a tissue-specific defect of CoQ 10 biosynthesis.

Original languageEnglish (US)
Pages (from-to)2379-2382
Number of pages4
JournalProceedings of the National Academy of Sciences of the United States of America
Volume86
Issue number7
StatePublished - 1989

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Mitochondrial Encephalomyopathies
Ubiquinone
Muscle Mitochondrion
Muscles
Electron Transport
Cytochromes a
Mitochondrial Myopathies
Respiratory Muscles
Muscle Weakness
Succinic Acid
Respiratory Rate
NAD
Central Nervous System
Fibroblasts
Coenzyme Q10 Deficiency
Serum

ASJC Scopus subject areas

  • General
  • Genetics

Cite this

Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. / Ogasahara, S.; Engel, Andrew G; Frens, D.; Mack, D.

In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 86, No. 7, 1989, p. 2379-2382.

Research output: Contribution to journalArticle

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abstract = "The electron transport system of muscle mitochondria was examined in a familial syndrome of lactacidemia, mitochondrial myopathy, and encephalopathy. The propositus, a 14-year-old female, and her 12-year-old sister had suffered from progressive muscle weakness, abnormal fatigability, and central nervous system dysfunction since early childhood. In the propositus, the state 3 respiratory rate of muscle mitochondria with NADH-linked substrates and with succinate was markedly reduced. The levels of cytochromes a + a 3, b and c + c 1 were normal. The activities of complexes I, II, III, and IV of the electron transport chain were normal or increased. By contrast, the activities of complex I-III and of complex II-III, both of which need coenzyme Q 10 (CoQ 10), were abnormally low. On direct measurement, the mitochondrial CoQ 10 content was 3.7{\%} of the mean value observed in 10 controls. Serum and cultured fibroblasts of the propositus had normal CoQ 10 contents. In the younger sister, the respiratory activities and CoQ 10 level of muscle mitochondria were similar to those observed in the propositus. The findings establish CoQ 10 deficiency as a cause of a familial mitochondrial cytopathy and suggest that the disease results from a tissue-specific defect of CoQ 10 biosynthesis.",
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