Dataset Information

Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.

ABSTRACT: 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.

SUBMITTER: Ansar M

PROVIDER: S-EPMC7068170 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature

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Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.

Ansar Muhammad M Ranza Emmanuelle E Shetty Madhur M Paracha Sohail A SA Azam Maleeha M Kern Ilse I Iwaszkiewicz Justyna J Farooq Omer O Pournaras Constantin J CJ Malcles Ariane A Kecik Mateusz M Rivolta Carlo C Muzaffar Waqar W Qurban Aziz A Ali Liaqat L Aggoun Yacine Y Santoni Federico A FA Makrythanasis Periklis P Ahmed Jawad J Qamar Raheel R Sarwar Muhammad T MT Henry L Keith LK Antonarakis Stylianos E SE

Human molecular genetics 20200301 4

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 de ...[more]

PMID: 31903486

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Dataset Information

Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.

Publications

Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.

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