Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency

Schijvens, Anne M; Kar, N.C. van de; Bootsma-Robroeks, Charlotte M H H T; Cornelissen, Elisabeth A.M.; Heuvel, Lambertus P. van den; Schreuder, Michiel F.

doi:10.1016/j.ekir.2020.09.044

Cited by 32 publications

(25 citation statements)

References 135 publications

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“…These changes can compromise the efficiency of oxidative phosphorylation and result in the uncoupling of oxidative phosphorylation in the setting of kidney disease [ 7 , 18 ]. Furthermore, CoQ10 deficiency, as shown in CKD patients [ 19 ], is known to trigger the generation of superoxide during electron transport in the mitochondria [ 20 ], leading to further oxidative damage.…”

Section: Mechanisms Of Mitochondrial Dysfunction In Patients With Kid...mentioning

confidence: 99%

“…The recent understanding of CKD-associated mitochondrial dysfunction has implications for potential therapeutic approaches to provide mitochondrial protection and maintain or improve functional capacity in patients with kidney disease. Among the wide variety of approaches to modulate mitochondrial function [ 40 ], CoQ10 is an important target since CKD patients are shown to have CoQ10 deficiency [ 19 ]. CoQ10 supplementation has been used successfully to target mitochondrial dysfunction in heart failure patients [ 41 ] and showed beneficial effects on the metabolic profile in CKD patients [ 42 ].…”

Section: Therapeutic Approachesmentioning

confidence: 99%

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Skeletal muscle energetics in patients with moderate to advanced kidney disease

Ertuğlu

Yıldız

Gamboa

et al. 2022

Kidney Res Clin Pract

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Sarcopenia, defined as decrease in muscle function and mass, is common in patients with moderate to advanced chronic kidney disease (CKD) and is associated with poor clinical outcomes. Muscle mitochondrial dysfunction is proposed as one of the mechanisms underlying sarcopenia. Patients with moderate to advanced CKD have decreased muscle mitochondrial content and oxidative capacity along with suppressed activity of various mitochondrial enzymes such as mitochondrial electron transport chain complexes and pyruvate dehydrogenase, leading to impaired energy production. Other mitochondrial abnormalities found in this population include defective beta-oxidation of fatty acids and mitochondrial DNA mutations. These changes are noticeable from the early stages of CKD and correlate with severity of the disease. Damage induced by uremic toxins, oxidative stress, and systemic inflammation has been implicated in the development of mitochondrial dysfunction in CKD patients. Given that mitochondrial function is an important determinant of physical activity and performance, its modulation is a potential therapeutic target for sarcopenia in patients with kidney disease. Coenzyme Q, nicotinamide, and cardiolipin-targeted peptides have been tested as therapeutic interventions in early studies. Aerobic exercise, a well-established strategy to improve muscle function and mass in healthy adults, is not as effective in patients with advanced kidney disease. This might be due to reduced expression or impaired activation of peroxisome proliferator-activated receptor-gamma coactivator 1α, the master regulator of mitochondrial biogenesis. Further studies are needed to broaden our understanding of the pathogenesis of mitochondrial dysfunction and to develop mitochondrial-targeted therapies for prevention and treatment of sarcopenia in patients with CKD.

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Section: Mechanisms Of Mitochondrial Dysfunction In Patients With Kid...mentioning

confidence: 99%

Section: Therapeutic Approachesmentioning

confidence: 99%

Skeletal muscle energetics in patients with moderate to advanced kidney disease

Ertuğlu

Yıldız

Gamboa

et al. 2022

Kidney Res Clin Pract

View full text Add to dashboard Cite

show abstract

“…Although these processes are the main features of CoQ deficiency, other processes where CoQ is involved contribute significantly to the development of the diseases [ 57 ]. Generally, CoQ deficiency has been associated with many age-related diseases [ 39 ], neurological disorders [ 93 ], kidney and liver diseases [ 94 , 95 ], and heart failure [ 96 ], among others.…”

Section: Coq Deficiency Syndromementioning

confidence: 99%

Coenzyme Q at the Hinge of Health and Metabolic Diseases

et al. 2021

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Coenzyme Q is a unique lipidic molecule highly conserved in evolution and essential to maintaining aerobic metabolism. It is endogenously synthesized in all cells by a very complex pathway involving a group of nuclear genes that share high homology among species. This pathway is tightly regulated at transcription and translation, but also by environment and energy requirements. Here, we review how coenzyme Q reacts within mitochondria to promote ATP synthesis and also integrates a plethora of metabolic pathways and regulates mitochondrial oxidative stress. Coenzyme Q is also located in all cellular membranes and plasma lipoproteins in which it exerts antioxidant function, and its reaction with different extramitochondrial oxidoreductases contributes to regulate the cellular redox homeostasis and cytosolic oxidative stress, providing a key factor in controlling various apoptosis mechanisms. Coenzyme Q levels can be decreased in humans by defects in the biosynthesis pathway or by mitochondrial or cytosolic dysfunctions, leading to a highly heterogeneous group of mitochondrial diseases included in the coenzyme Q deficiency syndrome. We also review the importance of coenzyme Q levels and its reactions involved in aging and age-associated metabolic disorders, and how the strategy of its supplementation has had benefits for combating these diseases and for physical performance in aging.

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“…Next generation sequencing of the entire mitochondrial genome was then performed on a urine sample, showing m.3243A>G point mutation in the mitochondrial-encoded MTTL1 gene, the most common cause of mitochondrial disease. Patients with MELAS syndrome have a highly variable phenotype, ranging from isolated diabetes and deafness to mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (OMIM #540000) (2). In MELAS syndrome, kidney involvement in rare and is usullay associated with focal segmental glomerulosclerosis pattern of injury.…”

Section: To the Editormentioning

confidence: 99%

“…Patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome have a highly variable phenotype, ranging from isolated diabetes and deafness to mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (OMIM #540000). 2 In MELAS syndrome, kidney involvement in rare and is usually associated with a focal segmental glomerulosclerosis pattern of injury. The m.3243A>G heteroplasmy was 31% and 88% in the patient’s blood and urine samples, respectively, and 19% in his sister’s blood sample.…”

mentioning

confidence: 99%

Another Case of Mitochondriopathy Manifesting as Inherited Tubulointerstitial Nephropathy without Other Symptomatic Organ Involvement

Gillion

Devresse

Demoulin

et al. 2021

Kidney International Reports

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This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

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Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency

Cited by 32 publications

References 135 publications

Skeletal muscle energetics in patients with moderate to advanced kidney disease

Skeletal muscle energetics in patients with moderate to advanced kidney disease

Coenzyme Q at the Hinge of Health and Metabolic Diseases

Another Case of Mitochondriopathy Manifesting as Inherited Tubulointerstitial Nephropathy without Other Symptomatic Organ Involvement

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