Melanopsin polymorphisms in seasonal affective disorder

描述(申请人提供)：拟议的研究将确定黑素基因的变异是否与SAD相关。黑色素是一种在视网膜细胞中发现的光色素，投射到生物钟和其他大脑区域，与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的病理基础。如果黑素的变异与SAD分离，黑素和视网膜光检测将牵涉到SAD的病理中。对光信号反应的配置失调可能会提供进一步的研究机会，包括黑素变异体的重要性；黑素蛋白、非视觉光检测、昼夜节律和SAD之间的相互作用；以及治疗发展中的生物行为问题，如强光治疗效果背后的机制因素。具体目标是：(1)确定与健康志愿者相比，SAD患者是否有更高的黑色素变异体患病率，以及(2)确定在家庭成员中，黑色素变异体是否与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.