Ubiquinone (Qn) functions as a mobile electron carrier in mitochondria. In humans, Q biosynthetic pathway mutations lead to Q10 deficiency, a life threatening disorder. We have used a Saccharomyces cerevisiae model of Q6 deficiency to screen for new modulators of ubiquinone biosynthesis. We generated several hypomorphic alleles of coq7/cat5 (clk-1 in Caenorhabditis elegans) encoding the penultimate enzyme in Q biosynthesis which converts 5-demethoxy Q6 (DMQ6) to 5-demethyl Q6, and screened for genes that, when overexpressed, suppressed their inability to grow on non-fermentable ethanol-implying recovery of lost mitochondrial function. Through this approach we identified Cardiolipin-specific Deacylase 1 (CLD1), a gene encoding a phospholipase A2 required for cardiolipin acyl remodeling. Interestingly, not all coq7 mutants were suppressed by Cld1p overexpression, and molecular modeling of the mutant Coq7p proteins that were suppressed showed they all contained disruptions in a hydrophobic α-helix that is predicted to mediate membrane-binding. CLD1 overexpression in the suppressible coq7 mutants restored the ratio of DMQ6 to Q6 toward wild type levels, suggesting recovery of lost Coq7p function. Identification of a spontaneous Cld1p loss-of-function mutation illustrated that Cld1p activity was required for coq7 suppression. This observation was further supported by HPLC-ESI-MS/MS profiling of monolysocardiolipin, the product of Cld1p. In summary, our results present a novel example of a lipid remodeling enzyme reversing a mitochondrial ubiquinone insufficiency by facilitating recovery of hypomorphic enzymatic function.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5014327 | PMC |
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0162165 | PLOS |
BMJ Open
December 2024
Division of Nephrology, Department of Internal Medicine, Showa University Graduate School of Medicine, Shinagawa-ku, Tokyo, Japan.
Introduction: Coenzyme Q10 (CoQ10) is a fat-soluble vitamin-like quinone. The plasma levels of CoQ10 are reduced in patients with chronic kidney disease (CKD). CoQ10 supplementation can improve mitochondrial function and decrease oxidative stress in these patients.
View Article and Find Full Text PDFClin Nutr ESPEN
February 2025
Department of the Reproductive Endocrinology Division, Hangzhou Women's Hospital, Teach School of Zhejiang Chinese Medical University, Hangzhou, Zhejiang, 310000, China. Electronic address:
Nephrology (Carlton)
September 2024
Department of Pediatrics, Peking University First Hospital, Beijing, People's Republic of China.
Primary coenzyme Q10 deficiency-1, caused by COQ2 disease-causing variants, is an autosomal recessive disorder, and genetic testing is the gold standard for diagnosing this condition. A Chinese boy with steroid-resistant nephrotic syndrome, focal segmental glomerulosclerosis, and progressive kidney insufficiency was included in the study. Electron microscopy revealed the glomerular basement membrane with irregular thickness and lamellation with diffuse effacement of foot processes in the podocytes, and swollen mitochondria with abnormal cristae in the podocytes.
View Article and Find Full Text PDFAnim Reprod Sci
July 2024
Department of Embryology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
Sperm cryopreservation plays an important role in the artificial insemination (AI) industry of small ruminants. It, however the use of frozen-thawed goat semen is limited due to the insufficient number of sperm with good biological functions. Mitochondria are the most sensitive organelles to cryopreservation damage in sperm.
View Article and Find Full Text PDFSex Med Rev
September 2024
Andrology Unit, Department of Clinical Medicine, Life, Health and Environmental Sciences, University of L'Aquila, 67100 Coppito, L'Aquila, Italy.
Introduction: The management of Peyronie's disease (PD) is a challenge for the clinician. Despite the lack of etiologic therapy, different nonsurgical approaches have often been empirically proposed. The most used treatment is based on nutraceutical drugs with antioxidant activity, although such an intervention remains controversial.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!