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Effect of 'binary mitochondrial heteroplasmy' on respiration and ATP synthesis: implications for mitochondrial diseases


, : Effect of 'binary mitochondrial heteroplasmy' on respiration and ATP synthesis: implications for mitochondrial diseases. Biochemical Journal 357(Pt 3): 835-842

Respiratory-chain-complex subunits in mitochondria are encoded by nuclear or mitochondrial DNA. This property might have profound implications for the phenotypic expression of mutations affecting oxidative phosphorylation complexes. The aim of this paper is to study the importance of the origin of the mutation (nuclear or mitochondrial) on the expression of mitochondrial defects. We have therefore developed theoretical models illustrating three mechanisms of nuclear or mitochondrial DNA mutation giving rise to a deficiency in the respiratory-chain complex: (1) a partial deficiency, homogeneously distributed in all of the mitochondria; (2) a complete deficiency, only affecting some of the mitochondria ('binary mitochondrial heteroplasmy'); and (3) a partial deficiency, affecting only some of the mitochondria. We show that mutations affecting oxidative phosphorylation complexes will be expressed in different ways depending on their origins. Although the expression of nuclear or mitochondrial mutations is evidence of a biochemical threshold, we demonstrate that the threshold value depends on the origin and distribution of the mutation (homogeneous or not) and also on the energy demand of the tissue. This last prediction has been confirmed in an experimental model using hexokinase for the simulation of the energy demand and a variation in mitochondrial concentration. We also emphasize the possible role of 'binary mitochondrial heteroplasmy' in the expression of mitochondrial DNA mutations and thus the importance of the origin of the deficit (mutation) for the diagnosis or therapy of mitochondrial diseases.

US$19.90

PMID: 11463355

DOI: 10.1042/0264-6021:3570835


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Keating-Nakamoto, S.; Cherek, H.; Lakowicz, J.R., 1985: A new method for resolution of two- and three-component mixtures of fluorophores by phase-sensitive detection of fluorescence. We describe a new method for the analysis of phase-sensitive fluorescence emission spectra. This method permits the resolution of three-component mixtures using spectra measured at a single modulation frequency. Phase-sensitive spectra are recorde...

Christiansen, K.H.; Gross, R.; Fanfera, F.; Stainback, W.C.; Trummer, M.J., 1966: Lung allografts with delayed opposite pulmonary artery ligation. Canine left lung allografts were followed after an interval of 1 to 2 weeks by ligation of the right pulmonary artery. The entire procedure was completed in 10 dogs. Five dogs survived, with 2 dogs living for 24 and 36 days after the artery ligati...

Naumov V.B.; Kovalenko V.I.; Sobolev A.V.; Tikhonenko P.I.; Samoylov V.S., 1987: Immiscibility of silicate and salt melts, as shown by the study of inclusions in high-temperature fluorite. Transactions (Doklady) of the US

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Suzuki, S., 1985: Temperature and thyroid function in Amphibia with particular reference to metamorphosis. Unknown

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Spivey H.O., 1992: Interpretation of enzyme buffering tests of substrate channeling. Biophysical Journal 61(2 PART 2): A458

Preston, C.A.; Schulz, K.S.; Taylor, K.T.; Kass, P.H.; Hagan, C.E.; Stover, S.M., 2001: In vitro experimental study of the effect of radial shortening and ulnar ostectomy on contact patterns in the elbow joint of dogs. This study was conducted to determine effects of incremental radial shortening and subsequent ulnar ostectomies on joint surface contact patterns in a canine elbow joint model. Paired forelimbs from 9 adult dogs. Joint casting was performed by pla...

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Sheng Qizhang,.; W.K.nmin,.; Cai Zhenyan,, 1990: Dynamical action of sperm penetration into the egg of Misgurnus anguillicaudatus. Zoological Research 11(3): 179-184