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Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
Abrams, Alexander J; Hufnagel, Robert B; Rebelo, Adriana; Zanna, Claudia; Patel, Neville; Gonzalez, Michael A; Campeanu, Ion J; Griffin, Laurie B; Groenewald, Saskia; Strickland, Alleene V; Tao, Feifei; Speziani, Fiorella; Abreu, Lisa; Schüle, Rebecca; Caporali, Leonardo; La Morgia, Chiara; Maresca, Alessandra; Liguori, Rocco; Lodi, Raffaele; Ahmed, Zubair M; Sund, Kristen L; Wang, Xinjian; Krueger, Laura A; Peng, Yanyan; Prada, Carlos E; Prows, Cynthia A; Schorry, Elizabeth K; Antonellis, Anthony; Zimmerman, Holly H; Abdul-Rahman, Omar A; Yang, Yaping; Downes, Susan M; Prince, Jeffery; Fontanesi, Flavia; Barrientos, Antonio; Németh, Andrea H; Carelli, Valerio; Huang, Taosheng; Zuchner, Stephan; Dallman, Julia E.
Afiliación
  • Abrams AJ; 1] John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [2] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [3] Department of Biology, University
  • Hufnagel RB; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
  • Rebelo A; 1] John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [2] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.
  • Zanna C; 1] Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy. [2] Neurology Unit, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
  • Patel N; Department of Biology, University of Miami, Coral Gables, Florida, USA.
  • Gonzalez MA; 1] John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [2] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.
  • Campeanu IJ; Department of Biology, University of Miami, Coral Gables, Florida, USA.
  • Griffin LB; 1] Cellular and Molecular Biology Program, University of Michigan, Ann Arbor, Michigan, USA. [2] Medical Scientist Training Program, University of Michigan, Ann Arbor, Michigan, USA.
  • Groenewald S; Department of Biology, University of Miami, Coral Gables, Florida, USA.
  • Strickland AV; 1] John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [2] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.
  • Tao F; 1] John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [2] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.
  • Speziani F; 1] John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [2] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.
  • Abreu L; 1] John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [2] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.
  • Schüle R; 1] John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [2] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [3] Department of Neurodegenerative D
  • Caporali L; Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy.
  • La Morgia C; 1] Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy. [2] Neurology Unit, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
  • Maresca A; 1] Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy. [2] Neurology Unit, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
  • Liguori R; 1] Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy. [2] Neurology Unit, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
  • Lodi R; Policlinico S. Orsola-Malpighi Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
  • Ahmed ZM; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, USA.
  • Sund KL; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
  • Wang X; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
  • Krueger LA; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
  • Peng Y; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
  • Prada CE; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
  • Prows CA; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
  • Schorry EK; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
  • Antonellis A; 1] Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA. [2] Department of Neurology, University of Michigan Medical School, Ann Arbor, Michigan, USA.
  • Zimmerman HH; Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi, USA.
  • Abdul-Rahman OA; Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi, USA.
  • Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Downes SM; 1] Nuffield Department of Clinical Neuroscience, University of Oxford, John Radcliffe Hospital, Oxford, UK. [2] Oxford Eye Hospital National Health Service (NHS) Trust, Oxford, UK.
  • Prince J; Department of Biology, University of Miami, Coral Gables, Florida, USA.
  • Fontanesi F; Department of Biochemistry and Molecular Biology, University of Miami, Miami, Florida, USA.
  • Barrientos A; 1] Department of Biochemistry and Molecular Biology, University of Miami, Miami, Florida, USA. [2] Department of Neurology, University of Miami, Miami, Florida, USA.
  • Németh AH; 1] Nuffield Department of Clinical Neuroscience, University of Oxford, John Radcliffe Hospital, Oxford, UK. [2] Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK.
  • Carelli V; 1] Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy. [2] Neurology Unit, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
  • Huang T; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
  • Zuchner S; 1] John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [2] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.
  • Dallman JE; Department of Biology, University of Miami, Coral Gables, Florida, USA.
Nat Genet ; 47(8): 926-32, 2015 Aug.
Article en En | MEDLINE | ID: mdl-26168012
ABSTRACT
Dominant optic atrophy (DOA) and axonal peripheral neuropathy (Charcot-Marie-Tooth type 2, or CMT2) are hereditary neurodegenerative disorders most commonly caused by mutations in the canonical mitochondrial fusion genes OPA1 and MFN2, respectively. In yeast, homologs of OPA1 (Mgm1) and MFN2 (Fzo1) work in concert with Ugo1, for which no human equivalent has been identified thus far. By whole-exome sequencing of patients with optic atrophy and CMT2, we identified four families with recessive mutations in SLC25A46. We demonstrate that SLC25A46, like Ugo1, is a modified carrier protein that has been recruited to the outer mitochondrial membrane and interacts with the inner membrane remodeling protein mitofilin (Fcj1). Loss of function in cultured cells and in zebrafish unexpectedly leads to increased mitochondrial connectivity, while severely affecting the development and maintenance of neurons in the fish. The discovery of SLC25A46 strengthens the genetic overlap between optic atrophy and CMT2 while exemplifying a new class of modified solute transporters linked to mitochondrial dynamics.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Atrofia Óptica Autosómica Dominante / Proteínas de Transporte de Fosfato / Proteínas Mitocondriales / Mutación Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Atrofia Óptica Autosómica Dominante / Proteínas de Transporte de Fosfato / Proteínas Mitocondriales / Mutación Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article