OMIA 001234-9940 : Reduced glutathione deficiency due to amino-acid transport defect in Ovis aries

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Co-Dominant

Considered a defect: yes

Key variant known: no

Cross-species summary: Glutathione is a small peptide consisting of just three amino acids: glutamic acid, cystein, and glycine. It is a widely-distributed molecule, serving as a reducing agent in many different metabolic processes. One of its most notable roles is in protecting red blood cells from oxidation and haemolysis. Glutathione normally exists in its reduced sulphydral form (GSH; often called reduced glutathione). Its oxidised form consists of two GSH molecules whose cysteines are joined by a di-sulphide bridge (symbolised GSSG). Unlike most peptides, glutathione is not the product of a gene; instead, it is manufactured from its three constituent amino acids in a two-step process catalysed by gamma-glutamylcysteine synthetase (GCS; which creates a di-peptide of glutamic acid and cysteine) and glutathione synthetase (GSHS; which adds glycine). Oxidation of GSH to GSSG is catalysed by glutathione peroxide (GPX); reduction back to GSH is catalysed by glutathione reductase (GR). In the type of deficiency of reduced glutathione described in this entry, all aspects of glutathione metabolism function normally. But a defect in the transport of cysteine across the erythrocyte membrane results in a deficiency of this vital component of GSH, and hence in a deficiency of GSH.

Species-specific description: This form of reduced glutathione deficiency has been reported in Finn and Awassi sheep (Young, 1983).

Breeds: Awassi, Finnish Landrace.

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
1983 Agar, N.S., Ellory, J.C., Board, P.G., Tucker, E.M. :
Cation transport in red blood cells :291-314, 1983.
Agar, N.S., Young, J.D., Board, P.G. :
Erythrocyte amino acid and nucleoside transport :271-290, 1983.
Board, P.G., Agar, N.S. :
Glutathione metabolism in erythrocytes :253-270, 1983.
1982 Young, J.D., Tucker, E.M., Kilgour, L. :
Genetic control of amino acid transport in sheep erythrocytes Biochemical Genetics 20:723-731, 1982. Pubmed reference: 7138497.
1981 Tucker, E.M., Young, J.D., Crowley, C. :
Red cell glutathione deficiency. Clinical and biochemical investigations using sheep as an experimental model system British Journal of Haematology 48:403-, 1981. Pubmed reference: 6114741.
1980 Tucker, E.M., Evans, N.R.S., Kilgour, L. :
Close linkage between the C blood group locus and the locus controlling amino acid transport in sheep erythrocytes Animal Blood Groups and Biochemical Genetics 11:119-125, 1980. Pubmed reference: 7436049.
1976 Young, J.D., Ellory, J.C., Tucker, E.M. :
Amino acid transport in normal and glutathione-deficient sheep erythrocytes Biochemical Journal 154:43-, 1976. Pubmed reference: 1275912.

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  • Created by Frank Nicholas on 06 Sep 2005