title: Mitochondrial Proteins Containing Coiled-Coil-Helix-Coiled-Coil-Helix (CHCH) Domains in Health and Disease.
abstract: Members of the coiled-coil-helix-coiled-coil-helix (CHCH) domain-containing protein family that carry (CX9C) type motifs are imported into the mitochondrion with the help of the disulfide relay-dependent MIA import pathway. These evolutionarily conserved proteins are emerging as new cellular factors that control mitochondrial respiration, redox regulation, lipid homeostasis, and membrane ultrastructure and dynamics. We discuss recent insights on the activity of known (CX9C) motif-carrying proteins in mammals and review current data implicating the Mia40/CHCHD4 import machinery in the regulation of their mitochondrial import. Recent findings and the identification of disease-associated mutations in specific (CX9C) motif-carrying proteins have highlighted members of this family of proteins as potential therapeutic targets in a variety of human disorders.
authors.affiliation: Institut National de la Santé et de la Recherche Médicale, U1030, Villejuif, France; Gustave Roussy Cancer Campus, Villejuif, France; Faculty of Medicine, Université Paris-Saclay, Kremlin-Bicêtre, France. Electronic address: nazanine.modjtahedi@gustaveroussy.fr.
authors.forename: Nazanine
authors.initials: N
authors.lastname: Modjtahedi
authors.affiliation: Institute of Molecular Cell and Systems Biology, College of Medical Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK.
authors.forename: Kostas
authors.initials: K
authors.lastname: Tokatlidis
authors.affiliation: Gustave Roussy Cancer Campus, Villejuif, France; Faculty of Medicine, Université Paris-Saclay, Kremlin-Bicêtre, France; Groupe bioinformatique Gustave Roussy Cancer Campus, Villejuif, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Dessen
authors.affiliation: Equipe 11 Labellisée Ligue Nationale Contre le Cancer, Centre de Recherche des Cordeliers, Paris, France; Institut National de la Santé et de la Recherche Médicale, U1138, Paris, France; Metabolomics and Cell Biology Platforms, Gustave Roussy Cancer Campus, Villejuif, France; Université Paris Descartes, Sorbonne Paris Cité, Paris, France; Université Pierre et Marie Curie, Paris, France; Pôle de Biologie, Hôpital Européen Georges Pompidou, Paris, AP-HP, France; Karolinska Institute, Department of Women's and Children's Health, Karolinska University Hospital, Stockholm, Sweden. Electronic address: kroemer@orange.fr.
authors.forename: Guido
authors.initials: G
authors.lastname: Kroemer
mesh_terms: D024101:Mitochondrial Proteins / Q000737:chemistry / Q000378:metabolism*; D011487:Protein Conformation
chemical_list: D024101:Mitochondrial Proteins
keywords: cancer; disulfide relay; metabolic disorder; mitochondrion; protein import; respiratory chain