Mitochondrial DNA Maintenance Defects: Potential Therapeutic Strategies

Overview

Journal Mol Genet Metab

Specialty Endocrinology

Date 2022 Aug 1

PMID 35914366

Authors

Mohammed Almannai

Ayman W El-Hattab

Mahshid S Azamian

May Ali

Fernando Scaglia

Affiliations

Soon will be listed here.

Abstract

Mitochondrial DNA (mtDNA) replication depends on the mitochondrial import of hundreds of nuclear encoded proteins that control the mitochondrial genome maintenance and integrity. Defects in these processes result in an expanding group of disorders called mtDNA maintenance defects that are characterized by mtDNA depletion and/or multiple mtDNA deletions with variable phenotypic manifestations. As it applies for mitochondrial disorders in general, current treatment options for mtDNA maintenance defects are limited. Lately, with the development of model organisms, improved understanding of the pathophysiology of these disorders, and a better knowledge of their natural history, the number of preclinical studies and existing and planned clinical trials has been increasing. In this review, we discuss recent preclinical studies and current and future clinical trials concerning potential therapeutic options for the different mtDNA maintenance defects.

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