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

Published inHuman Molecular Genetics, vol. 29, no. 4, p. 618-623
Publication date2020
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 similar to 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.

Keywords
  • Cone Photoreceptors
Citation (ISO format)
ANSAR, Muhammad et al. Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency. In: Human Molecular Genetics, 2020, vol. 29, n° 4, p. 618–623. doi: 10.1093/hmg/ddz303
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ISSN of the journal0964-6906
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Technical informations

Creation09/24/2020 12:01:00 PM
First validation09/24/2020 12:01:00 PM
Update time03/15/2023 10:40:14 PM
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