Molecular Psychiatry Laboratories, The Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.
The CRC for Mental Health, Carlton, Victoria, Australia.
J Hum Genet. 2018 Dec;63(12):1251-1258. doi: 10.1038/s10038-018-0511-2. Epub 2018 Sep 14.
Catechol-O-methyltransferase (COMT) is an enzyme that catalyses the O-methylation, and thereby the inactivation, of catechol-containing molecules. In humans, it has been suggested that COMT modulates cognitive ability, possibly by regulating degradation of dopamine in the prefrontal cortex. Hence, it is significant that two COMT SNPs, rs4680 (c.472 G > A, p.Val158Met) and rs4818 (c.408 C > G), have been associated with cognitive ability in humans. We have shown these SNPs to be associated with levels of muscarinic M1 receptor mRNA in human cortex, which is significant as that receptor also regulates cognitive ability. We decided to determine if COMT genotype was associated with varying levels of COMT protein, as this could be a mechanism by which COMT genotype could be associated with changes in muscarinic M1 receptor mRNA levels. Hence, we measured COMT levels in prefrontal cortex obtained postmortem from 199 subjects, some of whom had a history of schizophrenia, major depressive disorders or bipolar disorders. Our data show, independent of diagnostic status, that genotype at rs4680 and rs4818, but not at rs737865 and rs165599, is associated with differing levels of soluble COMT (S-COMT), but not membrane-bound COMT (MB-COMT). These findings suggest that the association between COMT polymorphisms and cognitive functioning could be, at least in part, due to their association with varying levels of S-COMT. This is important as, unlike MB-COMT, the substrates targeted by S-COMT are likely to be intra-cellular rather than, like dopamine, located mainly in the synaptic vesicles or the extra-cellular space.
儿茶酚-O-甲基转移酶(COMT)是一种酶,可催化含有儿茶酚的分子的 O-甲基化,从而使其失活。在人类中,已经表明 COMT 调节认知能力,可能通过调节前额叶皮层中多巴胺的降解来实现。因此,两个 COMT 单核苷酸多态性(SNP),rs4680(c.472 G > A,p.Val158Met)和 rs4818(c.408 C > G)与人类的认知能力相关,这是很重要的。我们已经表明这些 SNP 与人类皮质中的毒蕈碱 M1 受体 mRNA 水平相关,这很重要,因为该受体也调节认知能力。我们决定确定 COMT 基因型是否与 COMT 蛋白水平的变化相关,因为这可能是 COMT 基因型与毒蕈碱 M1 受体 mRNA 水平变化相关的一种机制。因此,我们测量了来自 199 名受试者的死后前额叶皮质中的 COMT 水平,其中一些人有精神分裂症、重度抑郁症或双相情感障碍的病史。我们的数据表明,无论诊断状态如何,rs4680 和 rs4818 的基因型与可溶性 COMT(S-COMT)的水平不同相关,但与 rs737865 和 rs165599 的基因型无关,但与膜结合 COMT(MB-COMT)无关。这些发现表明,COMT 多态性与认知功能之间的关联至少部分是由于它们与 S-COMT 水平的变化相关。这很重要,因为与 MB-COMT 不同,S-COMT 的底物很可能是细胞内的,而不像多巴胺那样主要位于突触小泡或细胞外空间。