Mitochondrial Complex I Deficiency

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Xu, R. Mitochondrial Complex I Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4210 (accessed on 29 September 2026).

Xu R. Mitochondrial Complex I Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4210. Accessed September 29, 2026.

Xu, Rita. "Mitochondrial Complex I Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4210 (accessed September 29, 2026).

Xu, R. (2020, December 23). Mitochondrial Complex I Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4210

Xu, Rita. "Mitochondrial Complex I Deficiency." Encyclopedia. Web. 23 December, 2020.

Mitochondrial Complex I Deficiency

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/mitochondrial-complex-i-deficiency

Mitochondrial complex I deficiency is a shortage (deficiency) of a protein complex called complex I or a loss of its function. Complex I is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Complex I is the first of five mitochondrial complexes that carry out a multi-step process called oxidative phosphorylation, through which cells derive much of their energy.

genetic conditions

References

Alston CL, Rocha MC, Lax NZ, Turnbull DM, Taylor RW. The genetics andpathology of mitochondrial disease. J Pathol. 2017 Jan;241(2):236-250. doi:10.1002/path.4809.
Blanchet L, Buydens MC, Smeitink JA, Willems PH, Koopman WJ. Isolatedmitochondrial complex I deficiency: explorative data analysis of patient cellparameters. Curr Pharm Des. 2011 Dec 1;17(36):4023-33. Review.
Distelmaier F, Koopman WJ, van den Heuvel LP, Rodenburg RJ, Mayatepek E,Willems PH, Smeitink JA. Mitochondrial complex I deficiency: from organelledysfunction to clinical disease. Brain. 2009 Apr;132(Pt 4):833-42. doi:10.1093/brain/awp058.
Fernández-Vizarra E, Tiranti V, Zeviani M. Assembly of the oxidativephosphorylation system in humans: what we have learned by studying its defects.Biochim Biophys Acta. 2009 Jan;1793(1):200-11. doi: 10.1016/j.bbamcr.2008.05.028.
Leman G, Gueguen N, Desquiret-Dumas V, Kane MS, Wettervald C, Chupin S,Chevrollier A, Lebre AS, Bonnefont JP, Barth M, Amati-Bonneau P, Verny C, HenrionD, Bonneau D, Reynier P, Procaccio V. Assembly defects induce oxidative stress ininherited mitochondrial complex I deficiency. Int J Biochem Cell Biol. 2015Aug;65:91-103. doi: 10.1016/j.biocel.2015.05.017.
Pagniez-Mammeri H, Loublier S, Legrand A, Bénit P, Rustin P, Slama A.Mitochondrial complex I deficiency of nuclear origin I. Structural genes. MolGenet Metab. 2012 Feb;105(2):163-72. doi: 10.1016/j.ymgme.2011.11.188.
Pagniez-Mammeri H, Rak M, Legrand A, Bénit P, Rustin P, Slama A. Mitochondrialcomplex I deficiency of nuclear origin II. Non-structural genes. Mol Genet Metab.2012 Feb;105(2):173-9. doi: 10.1016/j.ymgme.2011.10.001.Review.
Vartak RS, Semwal MK, Bai Y. An update on complex I assembly: the assembly of players. J Bioenerg Biomembr. 2014 Aug;46(4):323-8. doi:10.1007/s10863-014-9564-x.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

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