The genetic variation in monocarboxylic acid transporter 2 (MCT2) has functional and clinical relevance with male infertility.
The genetic variation in monocarboxylic acid transporter 2 (MCT2) has functional and clinical relevance with male infertility.
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DOI：
10.4103/1008-682x.124561
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发表时间：
2014-09
影响因子：
2.9
通讯作者：
Lee S
中科院分区：
文献类型：
--
作者：
Lee J;Lee DR;Lee S
一元羧酸转运蛋白2（monocarboxylic acid transporter 2，MCT 2）主要作为能量来源在精子内外转运丙酮酸和乳酸，参与精子发生的调控。我们研究了MCT 2基因的遗传变异、男性不育和精子中MCT 2表达水平之间的关系。研究了MCT 2基因内含子2（+28201A > G，rs 10506398）和3'非翻译区（UTR）单核苷酸多态性（SNP）（+2626G > A，rs 10506399）的功能和遗传学意义。MCT 2基因的2个多态性位点与男性不育相关（n = 471，P < 0.05）。特别是，MCT 2 -3' UTR SNP（+2626 G > A）与少弱畸形精子症（OAT）组有很强的相关性。+2626GG型的精子数是+2626AA型的2.4倍（+2626GG; 66 × 106 vs +2626AA; 27 × 106，P < 0.0001）。MCT 2 -3' UTR SNP可能对表达很重要，因为它位于MCT 2 3' UTR。+2626GG型精子中MCT 2蛋白的平均含量约为+2626AA型精子的2倍。结果表明，MCT 2的遗传变异与男性不育有功能和临床相关性。
Monocarboxylic acid transporter 2 (MCT2) transports pyruvate and lactate outside and inside of sperms, mainly as energy sources and plays roles in the regulation of spermatogenesis. We investigated the association among genetic variations in the MCT2 gene, male infertility and MCT2 expression levels in sperm. The functional and genetic significance of the intron 2 (+28201A > G, rs10506398) and 3’ untranslated region (UTR) single nucleotide polymorphism (SNP) (+2626G > A, rs10506399) of MCT2 variants were investigated. Two MCT2 polymorphisms were associated with male infertility (n = 471, P < 0.05). In particular, the MCT2-3’ UTR SNP (+2626 G > A) had a strong association with the oligoasthenoteratozoospermia (OAT) group. The +2626GG type had an almost 2.4-fold higher sperm count than that of the +2626AA type (+2626GG; 66 × 106 vs +2626AA; 27 × 106, P < 0.0001). The MCT2-3’ UTR SNP may be important for expression, as it is located at the MCT2 3’ UTR. The average MCT2 protein amount in sperm of the +2626GG type was about two times higher than that of the +2626AA type. The results suggest that genetic variation in MCT2 has functional and clinical relevance with male infertility.