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Review

A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation

1
Bicêtre Hospital, AP-HP, Biochemistry Department, 94275 Le Kremlin-Bicêtre, France
2
Necker Hospital, AP-HP, Reference Center for Inborn Error of Metabolism and Filière G2M, Pediatrics Department, University of Paris, 75015 Paris, France
3
Inserm UMR_S1163, Institut Imagine, 75015 Paris, France
4
Institut de Chimie des Substances Naturelles, CNRS, UPR 2301, Université Paris-Saclay, 91198 Gif-Sur-Yvette, France
*
Authors to whom correspondence should be addressed.
Academic Editor: Shaker A. Mousa
Biomedicines 2021, 9(8), 989; https://doi.org/10.3390/biomedicines9080989
Received: 23 June 2021 / Revised: 3 August 2021 / Accepted: 6 August 2021 / Published: 10 August 2021
(This article belongs to the Special Issue Fe-S Proteins in Health and Disease)
Mitochondrial proteins carrying iron-sulfur (Fe-S) clusters are involved in essential cellular pathways such as oxidative phosphorylation, lipoic acid synthesis, and iron metabolism. NFU1, BOLA3, IBA57, ISCA2, and ISCA1 are involved in the last steps of the maturation of mitochondrial [4Fe-4S]-containing proteins. Since 2011, mutations in their genes leading to five multiple mitochondrial dysfunction syndromes (MMDS types 1 to 5) were reported. The aim of this systematic review is to describe all reported MMDS-patients. Their clinical, biological, and radiological data and associated genotype will be compared to each other. Despite certain specific clinical elements such as pulmonary hypertension or dilated cardiomyopathy in MMDS type 1 or 2, respectively, nearly all of the patients with MMDS presented with severe and early onset leukoencephalopathy. Diagnosis could be suggested by high lactate, pyruvate, and glycine levels in body fluids. Genetic analysis including large gene panels (Next Generation Sequencing) or whole exome sequencing is needed to confirm diagnosis. View Full-Text
Keywords: MMDS; Fe-S proteins; NFU1; IBA57; BOLA3; ISCA1; ISCA2 MMDS; Fe-S proteins; NFU1; IBA57; BOLA3; ISCA1; ISCA2
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MDPI and ACS Style

Lebigot, E.; Schiff, M.; Golinelli-Cohen, M.-P. A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation. Biomedicines 2021, 9, 989. https://doi.org/10.3390/biomedicines9080989

AMA Style

Lebigot E, Schiff M, Golinelli-Cohen M-P. A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation. Biomedicines. 2021; 9(8):989. https://doi.org/10.3390/biomedicines9080989

Chicago/Turabian Style

Lebigot, Elise, Manuel Schiff, and Marie-Pierre Golinelli-Cohen. 2021. "A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation" Biomedicines 9, no. 8: 989. https://doi.org/10.3390/biomedicines9080989

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