PARTNERS-IN-SCIENCE PROGRAM: GENETICS OF AGE-RELATED EYE DISEASE

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 科学伙伴计划为高中科学教师提供在ONPRC实验室工作两个夏天的机会，并将他们学到的技术带回课堂。Van Der Volgen女士的项目专注于老年性黄斑变性(AMD)的遗传学，AMD是全球老年人视力丧失的主要原因。AMD的一个关键症状是在视网膜中央区域的黄斑形成玻璃体。玻璃体是视网膜下的废物沉积，最终会阻止营养物质的转移，导致感光器死亡。非人灵长类动物，包括猿和猴子，是唯一有黄斑和其他视网膜特征与人眼几乎相同的动物。恒河猴(Macaca Mulatta)会自发形成玻璃体，因此可以为AMD的研究提供一个合适的模型。最近的人类研究表明，LOC387715基因座的单核苷酸多态性(SNP)与AMD的进展有关，提示该基因座可能参与了AMD的发病机制。我们实验室的一项研究随后发现，恒河猴和人类一样，在LOC387715基因座上的一个特定SNP与红斑狼疮的存在之间存在关联；在一个无关动物的样本中，10682位的CC基因型被发现与红斑狼疮的频率高于杂合子CT基因型(C=胞嘧啶，T=胸腺嘧啶)。目前的补充性研究检测了与疾病相关的LOC387715 SNP在几个玻璃疱疹高发家庭的相关恒河猴中的分布。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The Partners-In-Science program provides opportunities for high school science teachers to work in ONPRC laboratories for two summers, and bring the techniques they learn back to their classrooms. Ms. Van Der Volgen's project focused on the genetics of age-related macular degeneration (AMD), the leading cause of vision loss in the elderly worldwide. A key symptom of AMD is the formation of drusen in the macula, the central area of the retina. Drusen are deposits of waste products under the retina that can eventually block transfer of nutrients and lead to photoreceptor death. Nonhuman primates, including apes and monkeys, are the only animals that have a macula and other retinal characteristics nearly identical to the human eye. Rhesus monkeys (Macaca mulatta) spontaneously develop drusen and therefore can provide an appropriate model for studying AMD. Recent human studies showed that a single nucleotide polymorphism (SNP) in the genetic locus LOC387715 was associated with AMD progression, suggesting that this locus may be involved in AMD pathogenesis. A study in our laboratory then found that rhesus monkeys, like humans, show an association between a particular SNP in the LOC387715 locus and the presence of drusen; in a sample of unrelated animals, the CC genotype at position 10682 was found to be associated with a higher frequency of drusen than the heterozygous CT genotype (C=cytosine, T=thymine). The present complementary study examined the disease-associated LOC387715 SNP in related rhesus macaques in several families with a high prevalence of drusen.