Meyerhoff Dieter J, Durazzo Timothy C
University of California San Francisco, VA Medical Center San Francisco, Center for Imaging of Neurodegenerative Diseases, San Francisco, California 94121, USA.
Alcohol Clin Exp Res. 2008 Jul;32(7):1146-58. doi: 10.1111/j.1530-0277.2008.00695.x.
Current effort is directed at defining new classification schemes for alcohol use disorders (AUD) based on genetic/biological, physiological, and behavioral endophenotypes.
We describe briefly findings of in vivo brain proton magnetic resonance spectroscopy ((1)H MRS) studies in AUD and propose that they be further explored and expanded regarding their value as a potential endophenotype for AUD.
In vivo (1)H MRS, as part of the emerging field of "imaging genomics," may provide readily accessible, objective, functionally significant and region-specific neurobiological measures that successfully link genotypes to neurocognition and to psychiatric symptomatology in relatively small patient cohorts. We discuss several functional gene variants that may affect specific (1)H MRS-detectable metabolites and provide recent data from our own work that supports the view of genetic effects on metabolite measures.
MRS-genetics research will not only offer clues to the functional significance and downstream effects of genetic differences in AUD, but, via monitoring and/or predicting the efficacy of pharmacological and behavioral interventions as a function of genotype, has the potential to influence future clinical management of AUD.
当前致力于基于遗传/生物学、生理学和行为内表型来定义酒精使用障碍(AUD)的新分类方案。
我们简要描述了AUD的体内脑质子磁共振波谱((1)H MRS)研究结果,并提议进一步探索和扩展其作为AUD潜在内表型的价值。
作为新兴的“成像基因组学”领域的一部分,体内(1)H MRS可提供易于获取、客观、功能上有意义且区域特异性的神经生物学测量方法,在相对较小的患者队列中成功地将基因型与神经认知和精神症状学联系起来。我们讨论了几种可能影响特定(1)H MRS可检测代谢物的功能基因变异,并提供了我们自己工作的最新数据,支持基因对代谢物测量有影响的观点。
MRS遗传学研究不仅将为AUD中遗传差异的功能意义和下游效应提供线索,而且通过监测和/或预测作为基因型函数的药物和行为干预的疗效,有可能影响AUD未来的临床管理。