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 language | English (US) |
|---|---|
| Pages (from-to) | 2379-2382 |
| Number of pages | 4 |
| Journal | Proceedings of the National Academy of Sciences of the United States of America |
| Volume | 86 |
| Issue number | 7 |
| State | Published - 1989 |
Fingerprint
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 journal › Article
}
TY - JOUR
T1 - Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy
AU - Ogasahara, S.
AU - Engel, Andrew G
AU - Frens, D.
AU - Mack, D.
PY - 1989
Y1 - 1989
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0141610413&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0141610413&partnerID=8YFLogxK
M3 - Article
C2 - 2928337
AN - SCOPUS:0141610413
VL - 86
SP - 2379
EP - 2382
JO - Proceedings of the National Academy of Sciences of the United States of America
JF - Proceedings of the National Academy of Sciences of the United States of America
SN - 0027-8424
IS - 7
ER -