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Review

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review

1
Department of Biosciences, Biotechnologies and Biopharmaceutics, Laboratory of Biochemistry and Molecular Biology, University of Bari Aldo Moro, via E. Orabona 4, 70125 Bari, Italy
2
Department of Sciences, University of Basilicata, via Ateneo Lucano 10, 85100 Potenza, Italy
*
Authors to whom correspondence should be addressed.
Biomolecules 2020, 10(4), 655; https://doi.org/10.3390/biom10040655
Received: 27 March 2020 / Revised: 15 April 2020 / Accepted: 17 April 2020 / Published: 23 April 2020
(This article belongs to the Special Issue Mitochondrial Transport Proteins)
In the 1980s, after the mitochondrial DNA (mtDNA) had been sequenced, several diseases resulting from mtDNA mutations emerged. Later, numerous disorders caused by mutations in the nuclear genes encoding mitochondrial proteins were found. A group of these diseases are due to defects of mitochondrial carriers, a family of proteins named solute carrier family 25 (SLC25), that transport a variety of solutes such as the reagents of ATP synthase (ATP, ADP, and phosphate), tricarboxylic acid cycle intermediates, cofactors, amino acids, and carnitine esters of fatty acids. The disease-causing mutations disclosed in mitochondrial carriers range from point mutations, which are often localized in the substrate translocation pore of the carrier, to large deletions and insertions. The biochemical consequences of deficient transport are the compartmentalized accumulation of the substrates and dysfunctional mitochondrial and cellular metabolism, which frequently develop into various forms of myopathy, encephalopathy, or neuropathy. Examples of diseases, due to mitochondrial carrier mutations are: combined D-2- and L-2-hydroxyglutaric aciduria, carnitine-acylcarnitine carrier deficiency, hyperornithinemia-hyperammonemia-homocitrillinuria (HHH) syndrome, early infantile epileptic encephalopathy type 3, Amish microcephaly, aspartate/glutamate isoform 1 deficiency, congenital sideroblastic anemia, Fontaine progeroid syndrome, and citrullinemia type II. Here, we review all the mitochondrial carrier-related diseases known until now, focusing on the connections between the molecular basis, altered metabolism, and phenotypes of these inherited disorders. View Full-Text
Keywords: disease; error of metabolism; mitochondrial carrier; mitochondrial carrier disease; mitochondrial disease; mitochondrial transporter; membrane transport; mutation; SLC25. disease; error of metabolism; mitochondrial carrier; mitochondrial carrier disease; mitochondrial disease; mitochondrial transporter; membrane transport; mutation; SLC25.
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MDPI and ACS Style

Palmieri, F.; Scarcia, P.; Monné, M. Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review. Biomolecules 2020, 10, 655. https://doi.org/10.3390/biom10040655

AMA Style

Palmieri F, Scarcia P, Monné M. Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review. Biomolecules. 2020; 10(4):655. https://doi.org/10.3390/biom10040655

Chicago/Turabian Style

Palmieri, Ferdinando, Pasquale Scarcia, and Magnus Monné. 2020. "Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review" Biomolecules 10, no. 4: 655. https://doi.org/10.3390/biom10040655

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