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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Smeets, Hubert J. M. De Coo, Irenaeus F. M. De Wit, L. Elly A. Sluiter, Wim Spruijt, Liesbeth Korsten, Alex |
| Description | Author Affiliation: Korsten A ( Department of Neurology, Erasmus MC Rotterdam, The Netherlands.) |
| Abstract | Ninety-five percent of Leber hereditary optic neuropathy (LHON) patients carry a mutation in one out of three mtDNA-encoded ND subunits of complex I. Penetrance is reduced and more male than female carriers are affected. To assess if a consistent biochemical phenotype is associated with LHON expression, complex I- and complex II-dependent adenosine triphosphate synthesis rates (CI-ATP, CII-ATP) were determined in digitonin-permeabilized peripheral blood mononuclear cells (PBMCs) of thirteen healthy controls and for each primary mutation of a minimum of three unrelated patients and of three unrelated carriers with normal vision and were normalized per mitochondrion (citrate synthase activity) or per cell (protein content). We found that in mitochondria, CI-ATP and CII-ATP were impaired irrespective of the primary LHON mutation and clinical expression. An increase in mitochondrial density per cell compensated for the dysfunctional mitochondria in LHON carriers but was insufficient to result in a normal biochemical phenotype in early-onset LHON patients. |
| ISSN | 00063002 |
| Journal | Biochimica et Biophysica Acta (BBA) - Reviews on Cancer |
| Issue Number | 2 |
| Volume Number | 1797 |
| Language | English |
| Publisher | Elsevier |
| Publisher Date | 2010-02-01 |
| Publisher Place | Netherlands |
| Access Restriction | Open |
| Subject Keyword | Electron Transport Complex II Genetics Electron Transport Complex I Mitochondria Metabolism Mutation Optic Atrophy, Hereditary, Leber Oxidative Phosphorylation Adenosine Triphosphate Adolescent Age Of Onset Case-Control Studies Citrate (si)-Synthase Membrane Potential, Mitochondrial Physiology Protons Comparative Study Research Support, Non-U.S. Gov't Biochemistry |
| Content Type | Text |
| Resource Type | Article |
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