Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome

M. E. Vazquez-Memije, S. Shanske, F. M. Santorelli, P. Kranz-Eble, E. Davidson, D. C. DeVivo, S. DiMauro

Research output: Contribution to journalArticle

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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 languageEnglish
Pages (from-to)43-50
Number of pages8
JournalJournal of Inherited Metabolic Disease
Volume19
Issue number1
DOIs
Publication statusPublished - 1996

Fingerprint

Leigh Disease
Fibroblasts
Adenosine Triphosphate
Pyruvate Dehydrogenase Complex Deficiency Disease
Hydrolysis
Cytochrome-c Oxidase Deficiency
Electron Transport Complex IV
Enzymes
Electron Transport
Pyruvic Acid
Mitochondrial DNA
Adenosine Triphosphatases
Mitochondria
Mutation
Genes
Maternal Inheritance

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

Cite this

Vazquez-Memije, M. E., Shanske, S., Santorelli, F. M., Kranz-Eble, P., Davidson, E., DeVivo, D. C., & DiMauro, S. (1996). Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome. Journal of Inherited Metabolic Disease, 19(1), 43-50. https://doi.org/10.1007/BF01799347

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 journalArticle

Vazquez-Memije, ME, Shanske, S, Santorelli, FM, Kranz-Eble, P, Davidson, E, DeVivo, DC & DiMauro, S 1996, 'Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome', Journal of Inherited Metabolic Disease, vol. 19, no. 1, pp. 43-50. https://doi.org/10.1007/BF01799347
Vazquez-Memije, M. E. ; Shanske, S. ; Santorelli, F. M. ; Kranz-Eble, P. ; Davidson, E. ; DeVivo, D. C. ; DiMauro, S. / Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome. In: Journal of Inherited Metabolic Disease. 1996 ; Vol. 19, No. 1. pp. 43-50.
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