Department of Neuroscience, Medical University of South Carolina, Charleston, SC, 29425, USA.
Charleston Alcohol Research Center, Medical University of South Carolina, Charleston, SC, 29425, USA.
Mol Psychiatry. 2023 Nov;28(11):4766-4776. doi: 10.1038/s41380-023-02236-3. Epub 2023 Sep 7.
Alcohol use disorder (AUD) is a life-threatening disease characterized by compulsive drinking, cognitive deficits, and social impairment that continue despite negative consequences. The inability of individuals with AUD to regulate drinking may involve functional deficits in cortical areas that normally balance actions that have aspects of both reward and risk. Among these, the orbitofrontal cortex (OFC) is critically involved in goal-directed behavior and is thought to maintain a representation of reward value that guides decision making. In the present study, we analyzed post-mortem OFC brain samples collected from age- and sex-matched control subjects and those with AUD using proteomics, bioinformatics, machine learning, and reverse genetics approaches. Of the 4,500+ total unique proteins identified in the proteomics screen, there were 47 proteins that differed significantly by sex that were enriched in processes regulating extracellular matrix and axonal structure. Gene ontology enrichment analysis revealed that proteins differentially expressed in AUD cases were involved in synaptic and mitochondrial function, as well as transmembrane transporter activity. Alcohol-sensitive OFC proteins also mapped to abnormal social behaviors and social interactions. Machine learning analysis of the post-mortem OFC proteome revealed dysregulation of presynaptic (e.g., AP2A1) and mitochondrial proteins that predicted the occurrence and severity of AUD. Using a reverse genetics approach to validate a target protein, we found that prefrontal Ap2a1 expression significantly correlated with voluntary alcohol drinking in male and female genetically diverse mouse strains. Moreover, recombinant inbred strains that inherited the C57BL/6J allele at the Ap2a1 interval consumed higher amounts of alcohol than those that inherited the DBA/2J allele. Together, these findings highlight the impact of excessive alcohol consumption on the human OFC proteome and identify important cross-species cortical mechanisms and proteins that control drinking in individuals with AUD.
酒精使用障碍(AUD)是一种危及生命的疾病,其特征是强迫性饮酒、认知缺陷和社交障碍,尽管存在负面后果,但仍持续存在。AUD 个体无法调节饮酒可能涉及皮质区域的功能缺陷,这些区域通常平衡具有奖励和风险因素的行为。在这些区域中,眶额皮层(OFC)在目标导向行为中起着至关重要的作用,并且被认为维持着指导决策的奖励价值的表示。在本研究中,我们使用蛋白质组学、生物信息学、机器学习和反向遗传学方法分析了来自年龄和性别匹配的对照受试者和 AUD 患者的死后 OFC 脑样本。在蛋白质组学筛选中鉴定出的 4500 多种总独特蛋白质中,有 47 种蛋白质因性别而异,这些蛋白质在调节细胞外基质和轴突结构的过程中富集。基因本体富集分析显示,AUD 病例中差异表达的蛋白质参与突触和线粒体功能以及跨膜转运蛋白活性。酒精敏感的 OFC 蛋白质也映射到异常的社交行为和社交互动。死后 OFC 蛋白质组的机器学习分析显示,突触前(例如 AP2A1)和线粒体蛋白质的失调预测了 AUD 的发生和严重程度。使用反向遗传学方法验证靶蛋白,我们发现前额叶 AP2A1 表达与雄性和雌性遗传多样性小鼠品系的自愿饮酒显著相关。此外,继承了 Ap2a1 间隔的 C57BL/6J 等位基因的重组近交系比继承了 DBA/2J 等位基因的重组近交系消耗了更多的酒精。总之,这些发现强调了过度饮酒对人类 OFC 蛋白质组的影响,并确定了控制 AUD 个体饮酒的重要跨物种皮质机制和蛋白质。