Mitochondrial Complex V Deficiency

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1		Rita Xu	+ 922 word(s)	922	2020-12-15 07:31:35

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

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

genetic conditions

References

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Diodato D, Invernizzi F, Lamantea E, Fagiolari G, Parini R, Menni F, ParentiG, Bollani L, Pasquini E, Donati MA, Cassandrini D, Santorelli FM, Haack TB,Prokisch H, Ghezzi D, Lamperti C, Zeviani M. Common and Novel TMEM70 Mutations ina Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy. JIMDRep. 2015;15:71-8. doi: 10.1007/8904_2014_300.
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.
Guerrero-Castillo S, Baertling F, Kownatzki D, Wessels HJ, Arnold S, Brandt U,Nijtmans L. The Assembly Pathway of Mitochondrial Respiratory Chain Complex I.Cell Metab. 2017 Jan 10;25(1):128-139. doi: 10.1016/j.cmet.2016.09.002.
Hejzlarová K, Mráček T, Vrbacký M, Kaplanová V, Karbanová V, Nůsková H, PecinaP, Houštěk J. Nuclear genetic defects of mitochondrial ATP synthase. Physiol Res.2014;63(Suppl 1):S57-71. Review.
Houstek J, Pícková A, Vojtísková A, Mrácek T, Pecina P, Jesina P.Mitochondrial diseases and genetic defects of ATP synthase. Biochim Biophys Acta.2006 Sep-Oct;1757(9-10):1400-5.
Jonckheere AI, Smeitink JA, Rodenburg RJ. Mitochondrial ATP synthase:architecture, function and pathology. J Inherit Metab Dis. 2012 Mar;35(2):211-25.doi: 10.1007/s10545-011-9382-9.
Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M,Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoğlu FT, Mayr JA,Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanović V, Dionisi-Vici C, van Coster R, Morava E, Sperl W, Zeman J, HonzikT. TMEM70 deficiency: long-term outcome of 48 patients. J Inherit Metab Dis. 2015May;38(3):417-26. doi: 10.1007/s10545-014-9774-8.Inherit Metab Dis. 2015 May;38(3):583-4. Morava-Kozicz, Eva [corrected to Morava,Eva].
Sperl W, Jesina P, Zeman J, Mayr JA, Demeirleir L, VanCoster R, Pícková A,Hansíková H, Houst'ková H, Krejcík Z, Koch J, Smet J, Muss W, Holme E, Houstek J.Deficiency of mitochondrial ATP synthase of nuclear genetic origin. NeuromusculDisord. 2006 Dec;16(12):821-9.
Spiegel R, Khayat M, Shalev SA, Horovitz Y, Mandel H, Hershkovitz E, Barghuti F, Shaag A, Saada A, Korman SH, Elpeleg O, Yatsiv I. TMEM70 mutations are acommon cause of nuclear encoded ATP synthase assembly defect: further delineationof a new syndrome. J Med Genet. 2011 Mar;48(3):177-82. doi:10.1136/jmg.2010.084608.
Torraco A, Verrigni D, Rizza T, Meschini MC, Vazquez-Memije ME, Martinelli D, Bianchi M, Piemonte F, Dionisi-Vici C, Santorelli FM, Bertini E, Carrozzo R.TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotalrole in complex V biogenesis. Neurogenetics. 2012 Nov;13(4):375-86. doi:10.1007/s10048-012-0343-8.

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Update Date: 23 Dec 2020

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