Abstract
We have compared respiratory chain enzyme activities, ATP synthesis, and ATP hydrolysis in cultured fibroblast mitochondria from patients with Leigh syndrome (LS) due to: (i) cytochrome oxidase (COX) deficiency (6); (ii) pyruvate dehydrogenase complex (PDHC) deficiency (4); and (iii) maternally inherited LS (MILS) with the T8993G mutation in the ATPase 6 gene of mtDNA (5). Enzyme activities were normal in patients with MILS and variably decreased in those with COX and PDHC deficiency. ATP hydrolysis was normal or mildly decreased in all three groups. In contrast, ATP synthesis was decreased in all patients but more markedly in those with MILS, and especially with pyruvate/malate as substrate. These studies show that impaired ATP production is the common feature of all three forms of LS, but it is both more severe and more specific in MILS, consistent with the genetic defect.
| Original language | English |
|---|---|
| Pages (from-to) | 43-50 |
| Number of pages | 8 |
| Journal | Journal of Inherited Metabolic Disease |
| Volume | 19 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 1996 |
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ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
- Endocrinology
Cite this
Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome. / Vazquez-Memije, M. E.; Shanske, S.; Santorelli, F. M.; Kranz-Eble, P.; Davidson, E.; DeVivo, D. C.; DiMauro, S.
In: Journal of Inherited Metabolic Disease, Vol. 19, No. 1, 1996, p. 43-50.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome
AU - Vazquez-Memije, M. E.
AU - Shanske, S.
AU - Santorelli, F. M.
AU - Kranz-Eble, P.
AU - Davidson, E.
AU - DeVivo, D. C.
AU - DiMauro, S.
PY - 1996
Y1 - 1996
N2 - We have compared respiratory chain enzyme activities, ATP synthesis, and ATP hydrolysis in cultured fibroblast mitochondria from patients with Leigh syndrome (LS) due to: (i) cytochrome oxidase (COX) deficiency (6); (ii) pyruvate dehydrogenase complex (PDHC) deficiency (4); and (iii) maternally inherited LS (MILS) with the T8993G mutation in the ATPase 6 gene of mtDNA (5). Enzyme activities were normal in patients with MILS and variably decreased in those with COX and PDHC deficiency. ATP hydrolysis was normal or mildly decreased in all three groups. In contrast, ATP synthesis was decreased in all patients but more markedly in those with MILS, and especially with pyruvate/malate as substrate. These studies show that impaired ATP production is the common feature of all three forms of LS, but it is both more severe and more specific in MILS, consistent with the genetic defect.
AB - We have compared respiratory chain enzyme activities, ATP synthesis, and ATP hydrolysis in cultured fibroblast mitochondria from patients with Leigh syndrome (LS) due to: (i) cytochrome oxidase (COX) deficiency (6); (ii) pyruvate dehydrogenase complex (PDHC) deficiency (4); and (iii) maternally inherited LS (MILS) with the T8993G mutation in the ATPase 6 gene of mtDNA (5). Enzyme activities were normal in patients with MILS and variably decreased in those with COX and PDHC deficiency. ATP hydrolysis was normal or mildly decreased in all three groups. In contrast, ATP synthesis was decreased in all patients but more markedly in those with MILS, and especially with pyruvate/malate as substrate. These studies show that impaired ATP production is the common feature of all three forms of LS, but it is both more severe and more specific in MILS, consistent with the genetic defect.
UR - http://www.scopus.com/inward/record.url?scp=0029919608&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0029919608&partnerID=8YFLogxK
U2 - 10.1007/BF01799347
DO - 10.1007/BF01799347
M3 - Article
VL - 19
SP - 43
EP - 50
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
SN - 0141-8955
IS - 1
ER -