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Renal involvement in the mitochondrial cytopathies

Patrick Niaudet, MD
Section Editors
Tej K Mattoo, MD, DCH, FRCP
Marc C Patterson, MD, FRACP
Deputy Editor
Melanie S Kim, MD


Mitochondrial cytopathies are a heterogeneous group of disorders characterized by genetic defects in one or more of the enzymatic complexes of the respiratory chain. These disorders impair oxidative phosphorylation [1-3], and were long regarded as neuromuscular diseases. However, they also cause dysfunction of the kidney and other organs because many tissues, in addition to muscle and brain, are highly dependent upon mitochondrial energy supply [4-7]. (See "Mitochondrial myopathies: Clinical features and diagnosis".)

An overview of the mitochondrial cytopathies, with an emphasis on associated kidney disorders, is presented here. A brief review of the physiology and genetics of the mitochondria is required to fully understand the various clinical manifestations of the mitochondrial cytopathies.


The main function of the mitochondrion is the production of adenosine triphosphate (ATP) through oxidative phosphorylation. Oxidative phosphorylation occurs in the mitochondrial inner membrane, and includes the oxidation of fuel molecules with energy transduction into ATP. During this process, reducing equivalents are transferred to oxygen via the complexes of the mitochondrial respiratory chain. The mitochondrial structure, function, and genetics are discussed separately. (See "Mitochondrial structure, function, and genetics".)


Mutations in both mitochondrial and nuclear genes have been identified in patients with mitochondrial disorder and renal involvement. However, the molecular definition of the genetic mutation underlying mitochondrial respiratory chain defects is complicated by the dual genetic control of respiratory chain proteins, and by the high number of genes involved in the biogenesis and the assembly of the respiratory chain (table 1). All modes of inheritance can be observed in mitochondrial disorders, including mitochondrial DNA (mtDNA) or nuclear gene mutations in sporadic cases; maternal transmission of mtDNA mutations; and autosomal recessive, autosomal dominant, and X-linked inheritance of nuclear gene mutations.

The genetics that underlie a mitochondrial disorder with renal involvement have been identified in only a few patients and families. These will be reviewed in the following sections. Disorders with primarily extrarenal manifestations due to mutations in mitochondrial genes are discussed separately. (See "Mitochondrial myopathies: Clinical features and diagnosis".)

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Literature review current through: Nov 2017. | This topic last updated: Sep 01, 2016.
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