1235488
doi
10.1002/(sici)1097-4598(200001)23:1<90::aid-mus12>3.0.co;2-m
oai:zenodo.org:1235488
Fishbein, William N.
Davis, John I.
Foellmer, John W.
Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport
Merezhinskaya, Natalya
info:eu-repo/semantics/openAccess
Creative Commons Zero v1.0 Universal
https://creativecommons.org/publicdomain/zero/1.0/legalcode
We identified 5 patients with subnormal erythrocyte lactate transport plus symptoms and signs of muscle injury on exercise and heat exposure. All had transport rates below the 95% envelope for normals. Three cases had rates 40–50% of mean normal. One was found to have a missense mutation in monocarboxylate transporter 1 (MCT1), the gene for the red cell lactate transporter (also expressed in skeletal muscle), at a conserved site, which was not mutated in a cohort of 90 normal humans. The other 2 cases had a different missense mutation (at a nonconserved site), which was also not mutated in the normal cohort. All 3 patients were heterozygotes. We presume that these mutations are responsible for their subnormal lactate transport, and hence their muscle injury under environmental stress; homozygous patients should be more seriously compromised. The other 2 cases had lactate transport rates 60–65% of mean normal, and their MCT1 revealed a third mutation, which proved to be a common polymorphism in the normal cohort. These 2 patients may be physiologic outliers in lactate transport, with their muscle damage arising from some other genetic defect.
Zenodo
2000-01-01
info:eu-repo/semantics/article
1235487
1579542047.890256
315189
md5:3e2936b25f677206fad32aac69f4f119
https://zenodo.org/records/1235488/files/article.pdf
public