Primary Coenzyme Q10 (CoQ 10) Deficiencies and Related Nephropathies

Overview

Journal Pediatr Nephrol

Specialties Nephrology
Pediatrics

Date 2013 Jun 6

PMID 23736673

Citations 27

Authors

Fatih Ozaltin

Affiliations

Soon will be listed here.

Abstract

Oxidative phosphorylation (OXPHOS) is a metabolic pathway that uses energy released by the oxidation of nutrients to generate adenosine triphosphate (ATP). Coenzyme Q10 (CoQ10), also known as ubiquinone, plays an essential role in the human body not only by generating ATP in the mitochondrial respiratory chain but also by providing protection from reactive oxygen species (ROS) and functioning in the activation of many mitochondrial dehydrogenases and enzymes required in pyrimidine nucleoside biosynthesis. The presentations of primary CoQ10 deficiencies caused by genetic mutations are very heterogeneous. The phenotypes related to energy depletion or ROS production may depend on the content of CoQ10 in the cell, which is determined by the severity of the mutation. Primary CoQ10 deficiency is unique among mitochondrial disorders because early supplementation with CoQ10 can prevent the onset of neurological and renal manifestations. In this review I summarize primary CoQ10 deficiencies caused by various genetic abnormalities, emphasizing its nephropathic form.

Citing Articles

Renoprotective effects of coenzyme Q10 supplementation in patients with chronic kidney disease: a protocol for a systematic review.

Abe Y, Nishiwaki H, Suzuki T, Noma H, Watanabe Y, Ota E BMJ Open. 2025; 14(12):e084088.

PMID: 39806632 PMC: 11664338. DOI: 10.1136/bmjopen-2024-084088.

Diverse retinal-kidney phenotypes associated with homozygous whole-gene deletions in patients with kidney failure.

Esson G, Logan I, Wood K, Browning A, Sayer J J Rare Dis (Berlin). 2024; 3(1):7.

PMID: 38433745 PMC: 10904492. DOI: 10.1007/s44162-024-00031-4.

Red Flags in Primary Mitochondrial Diseases: What Should We Recognize?.

Conti F, Di Martino S, Drago F, Bucolo C, Micale V, Montano V Int J Mol Sci. 2023; 24(23).

PMID: 38069070 PMC: 10706469. DOI: 10.3390/ijms242316746.

Alvi N, Turkstani B, Ashi A, Alzahrani A, Tawffeq A Cureus. 2022; 14(11):e31922.

PMID: 36532926 PMC: 9749873. DOI: 10.7759/cureus.31922.

COQ8B glomerular nephropathy: Outcomes after kidney transplantation and analysis of characteristics in Chinese population.

Zeng S, Xu Y, Cheng C, Yu N, Liu L, Mo Y Front Pediatr. 2022; 10:938863.

PMID: 36034551 PMC: 9399612. DOI: 10.3389/fped.2022.938863.

References

Fosslien E . Mitochondrial medicine--molecular pathology of defective oxidative phosphorylation. Ann Clin Lab Sci. 2001; 31(1):25-67. View

Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, DiMauro S . A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am J Hum Genet. 2006; 78(2):345-9. PMC: 1380241. DOI: 10.1086/500092. View

Mollet J, Giurgea I, Schlemmer D, Dallner G, Chretien D, Delahodde A . Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest. 2007; 117(3):765-72. PMC: 1804361. DOI: 10.1172/JCI29089. View

Kirby D, Thorburn D, Turnbull D, Taylor R . Biochemical assays of respiratory chain complex activity. Methods Cell Biol. 2007; 80:93-119. DOI: 10.1016/S0091-679X(06)80004-X. View

Turunen M, Olsson J, Dallner G . Metabolism and function of coenzyme Q. Biochim Biophys Acta. 2004; 1660(1-2):171-99. DOI: 10.1016/j.bbamem.2003.11.012. View

Hirsch T, Marzo I, Kroemer G . Role of the mitochondrial permeability transition pore in apoptosis. Biosci Rep. 1997; 17(1):67-76. DOI: 10.1023/a:1027339418683. View

Quinzii C, Kattah A, Naini A, Akman H, Mootha V, DiMauro S . Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology. 2005; 64(3):539-41. DOI: 10.1212/01.WNL.0000150588.75281.58. View

Musumeci O, Naini A, Slonim A, Skavin N, Hadjigeorgiou G, Krawiecki N . Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. Neurology. 2001; 56(7):849-55. DOI: 10.1212/wnl.56.7.849. View

Kim I, Rodriguez-Enriquez S, Lemasters J . Selective degradation of mitochondria by mitophagy. Arch Biochem Biophys. 2007; 462(2):245-53. PMC: 2756107. DOI: 10.1016/j.abb.2007.03.034. View

10.

Waldmeier P, Zimmermann K, Qian T, Tintelnot-Blomley M, Lemasters J . Cyclophilin D as a drug target. Curr Med Chem. 2003; 10(16):1485-506. DOI: 10.2174/0929867033457160. View

11.

Artuch R, Brea-Calvo G, Briones P, Aracil A, Galvan M, Espinos C . Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation. J Neurol Sci. 2006; 246(1-2):153-8. DOI: 10.1016/j.jns.2006.01.021. View

12.

Rahman S, Hargreaves I, Clayton P, Heales S . Neonatal presentation of coenzyme Q10 deficiency. J Pediatr. 2001; 139(3):456-8. DOI: 10.1067/mpd.2001.117575. View

13.

Emmanuele V, Lopez L, Lopez L, Berardo A, Naini A, Tadesse S . Heterogeneity of coenzyme Q10 deficiency: patient study and literature review. Arch Neurol. 2012; 69(8):978-83. PMC: 3639472. DOI: 10.1001/archneurol.2012.206. View

14.

Horvath R, Schneiderat P, Schoser B, Gempel K, Neuen-Jacob E, Ploger H . Coenzyme Q10 deficiency and isolated myopathy. Neurology. 2006; 66(2):253-5. DOI: 10.1212/01.wnl.0000194241.35115.7c. View

15.

Naderi J, Somayajulu-Nitu M, Mukerji A, Sharda P, Sikorska M, Borowy-Borowski H . Water-soluble formulation of Coenzyme Q10 inhibits Bax-induced destabilization of mitochondria in mammalian cells. Apoptosis. 2006; 11(8):1359-69. DOI: 10.1007/s10495-006-8417-4. View

16.

Gerards M, van den Bosch B, Calis C, Schoonderwoerd K, van Engelen K, Tijssen M . Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. Mitochondrion. 2010; 10(5):510-5. DOI: 10.1016/j.mito.2010.05.008. View

17.

HATEFI Y . The mitochondrial electron transport and oxidative phosphorylation system. Annu Rev Biochem. 1985; 54:1015-69. DOI: 10.1146/annurev.bi.54.070185.005055. View

18.

Ogasahara S, Engel A, Frens D, Mack D . Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci U S A. 1989; 86(7):2379-82. PMC: 286916. DOI: 10.1073/pnas.86.7.2379. View

19.

Gironi M, Lamperti C, Nemni R, Moggio M, Comi G, Guerini F . Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency. Neurology. 2004; 62(5):818-20. DOI: 10.1212/01.wnl.0000113719.67643.b7. View

20.

Le Ber I, Dubourg O, Benoist J, Jardel C, Mochel F, Koenig M . Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1. Neurology. 2007; 68(4):295-7. DOI: 10.1212/01.wnl.0000252366.10731.43. View