Mitochondrial DNA mutations in renal disease: an overview

Kidneys have a high energy demand to facilitate the reabsorption of the glomerular filtrate. For this reason, renal cells have a high density of mitochondria. Mitochondrial cytopathies can be the result of a mutation in both mitochondrial and nuclear DNA. Mitochondrial dysfunction can lead to a vari...

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Bibliographic Details
Published in:Pediatric nephrology (Berlin, West) West), 2021-01, Vol.36 (1), p.9-17
Main Authors: Govers, Larissa P., Toka, Hakan R., Hariri, Ali, Walsh, Stephen B., Bockenhauer, Detlef
Format: Article
Language:English
Subjects:
Clear cell-type renal cell carcinoma
Complications and side effects
Deoxyribonucleic acid
DNA
End-stage renal disease
Fanconi syndrome
Genetic aspects
Health aspects
Hypomagnesemia
Kidney diseases
Medicine
Medicine & Public Health
Mitochondrial diseases
Mitochondrial DNA
Mutation
Nephritis
Nephrology
Nephrotic syndrome
Pancreas
Pediatrics
Reabsorption
Review
Risk factors
Sclerosis
Urology
What’s new in Renal Development
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Summary:Kidneys have a high energy demand to facilitate the reabsorption of the glomerular filtrate. For this reason, renal cells have a high density of mitochondria. Mitochondrial cytopathies can be the result of a mutation in both mitochondrial and nuclear DNA. Mitochondrial dysfunction can lead to a variety of renal manifestations. Examples of tubular manifestations are renal Fanconi Syndrome, which is often found in patients diagnosed with Kearns-Sayre and Pearson’s marrow-pancreas syndrome, and distal tubulopathies, which result in electrolyte disturbances such as hypomagnesemia. Nephrotic syndrome can be a glomerular manifestation of mitochondrial dysfunction and is typically associated with focal segmental glomerular sclerosis on histology. Tubulointerstitial nephritis can also be seen in mitochondrial cytopathies and may lead to end-stage renal disease. The underlying mechanisms of these cytopathies remain incompletely understood; therefore, current therapies focus mainly on symptom relief. A better understanding of the molecular disease mechanisms is critical in order to improve treatments.
ISSN:0931-041X
1432-198X
DOI:10.1007/s00467-019-04404-6