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Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.
Ansar, Muhammad; Ranza, Emmanuelle; Shetty, Madhur; Paracha, Sohail A; Azam, Maleeha; Kern, Ilse; Iwaszkiewicz, Justyna; Farooq, Omer; Pournaras, Constantin J; Malcles, Ariane; Kecik, Mateusz; Rivolta, Carlo; Muzaffar, Waqar; Qurban, Aziz; Ali, Liaqat; Aggoun, Yacine; Santoni, Federico A; Makrythanasis, Periklis; Ahmed, Jawad; Qamar, Raheel; Sarwar, Muhammad T; Henry, L Keith; Antonarakis, Stylianos E.
Afiliación
  • Ansar M; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
  • Ranza E; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
  • Shetty M; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
  • Paracha SA; Department of Biomedical Sciences, School of Medicine and Health Sciences, University of North Dakota, Grand Forks, ND, USA.
  • Azam M; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan.
  • Kern I; Department of Biosciences, Faculty of Science, COMSATS University, Islamabad, Pakistan.
  • Iwaszkiewicz J; Pediatric Nephrology and Metabolism Unit, Pediatric Subspecialties Service, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland.
  • Farooq O; Swiss Institute of Bioinformatics, Molecular Modeling Group, University of Lausanne, Lausanne, Switzerland.
  • Pournaras CJ; Bahria University Medical and Dental College, Karachi, Pakistan.
  • Malcles A; Hirslanden Clinique La Colline, Geneva, Switzerland.
  • Kecik M; Department of Ophthalmology, University Hospitals of Geneva, Geneva, Switzerland.
  • Rivolta C; Department of Ophthalmology, University Hospitals of Geneva, Geneva, Switzerland.
  • Muzaffar W; Clinical Research Center, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
  • Qurban A; Department of Ophthalmology, University Hospital Basel, Switzerland.
  • Ali L; Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom.
  • Aggoun Y; Armed Forces Institute of Ophthalmology, Rawalpindi, Pakistan.
  • Santoni FA; Armed Forces Institute of Ophthalmology, Rawalpindi, Pakistan.
  • Makrythanasis P; Department of Biosciences, Faculty of Science, COMSATS University, Islamabad, Pakistan.
  • Ahmed J; Pediatric Cardiology, Geneva University Hospitals, Geneva, Switzerland.
  • Qamar R; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
  • Sarwar MT; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
  • Henry LK; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan.
  • Antonarakis SE; Department of Biosciences, Faculty of Science, COMSATS University, Islamabad, Pakistan.
Hum Mol Genet ; 29(4): 618-623, 2020 03 13.
Article en En | MEDLINE | ID: mdl-31903486
In a consanguineous Pakistani family with two affected individuals, a homozygous variant Gly399Val in the eighth transmembrane domain of the taurine transporter SLC6A6 was identified resulting in a hypomorph transporting capacity of ~15% compared with normal. Three-dimensional modeling of this variant has indicated that it likely causes displacement of the Tyr138 (TM3) side chain, important for transport of taurine. The affected individuals presented with rapidly progressive childhood retinal degeneration, cardiomyopathy and almost undetectable plasma taurine levels. Oral taurine supplementation of 100 mg/kg/day resulted in maintenance of normal blood taurine levels. Following approval by the ethics committee, a long-term supplementation treatment was introduced. Remarkably, after 24-months, the cardiomyopathy was corrected in both affected siblings, and in the 6-years-old, the retinal degeneration was arrested, and the vision was clinically improved. Similar therapeutic approaches could be employed in Mendelian phenotypes caused by the dysfunction of the hundreds of other molecular transporters.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Degeneración Retiniana / Taurina / Glicoproteínas de Membrana / Cardiomiopatías Aspecto: Ethics Límite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Suiza Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Degeneración Retiniana / Taurina / Glicoproteínas de Membrana / Cardiomiopatías Aspecto: Ethics Límite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Suiza Pais de publicación: Reino Unido