Melanopsin polymorphisms in seasonal affective disorder

描述（由申请人提供）：拟议的研究将确定黑视素基因的变异是否与SAD相关。黑视素是一种在投射到生物钟和其他大脑区域的视网膜细胞中发现的色素，与对环境光的非视觉反应有关。SAD的病因模型和治疗结果研究表明，冬季视网膜光检测中断可能是SAD病理的基础。如果黑视蛋白的变化与SAD分离，则黑视蛋白和视网膜光检测将涉及SAD的病理学。对光线索的反应性的性格失调可能提供进一步研究的机会，关于黑视蛋白变体的意义;黑视蛋白，非可见光检测，昼夜节律和SAD之间的相互作用;以及治疗开发中的生物行为问题，如明亮的光疗法功效背后的机械因素。具体目标是：（1）确定与健康志愿者相比，患有SAD的个体是否具有黑视蛋白中所鉴定的变体的更高患病率，以及（2）确定黑视蛋白变体是否与家族成员中的SAD诊断分离。

DESCRIPTION (provided by applicant): The proposed research will determine whether variations in the gene for melanopsin are correlated with SAD. Melanopsin, a photopigment found in retinal cells projecting to the circadian clock and other brain areas, is implicated in non-visual responses to environmental light. Etiological models and treatment outcome research for SAD suggest that winter-time disruption of retinal light detection may underlie the pathology of SAD. If variations in melanopsin segregate with SAD, melanopsin and retinal light detection will be implicated in the pathology of SAD. Dispositional dysregulation of responsiveness to light cues may provide further research opportunities regarding the significance of melanopsin variants; the interplay between melanopsin, non-visual light detection, circadian rhythms, and SAD; and bio-behavioral issues in treatment development such as mechanistic factors behind the efficacy of bright light therapy. Specific aims are: (1) to determine if individuals with SAD have a higher prevalence of the identified variant in melanopsin compared to healthy volunteers, and (2) to determine if the melanopsin variant segregates with SAD diagnosis in family members.