Red Flags in Primary Mitochondrial Diseases: What Should We Recognize?

Overview

Journal Int J Mol Sci

Publisher MDPI

Specialties Biochemistry
Chemistry
Molecular Biology

Date 2023 Dec 9

PMID 38069070

Authors

Federica Conti

Serena Di Martino

Filippo Drago

Claudio Bucolo

Vincenzo Micale

Vincenzo Montano

Gabriele Siciliano

Michelangelo Mancuso

Piervito Lopriore

Affiliations

Soon will be listed here.

Abstract

Primary mitochondrial diseases (PMDs) are complex group of metabolic disorders caused by genetically determined impairment of the mitochondrial oxidative phosphorylation (OXPHOS). The unique features of mitochondrial genetics and the pivotal role of mitochondria in cell biology explain the phenotypical heterogeneity of primary mitochondrial diseases and the resulting diagnostic challenges that follow. Some peculiar features ("red flags") may indicate a primary mitochondrial disease, helping the physician to orient in this diagnostic maze. In this narrative review, we aimed to outline the features of the most common mitochondrial red flags offering a general overview on the topic that could help physicians to untangle mitochondrial medicine complexity.

Citing Articles

Mechanisms and pathologies of human mitochondrial DNA replication and deletion formation.

Bernardino Gomes T, Vincent A, Menger K, Stewart J, Nicholls T Biochem J. 2024; 481(11):683-715.

PMID: 38804971 PMC: 11346376. DOI: 10.1042/BCJ20230262.

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