CANDIDATE GENE STUDY OF INHERITED RETINAL DEGENERATIONS

描述(摘自研究者摘要)：视网膜色素变性(RP) 和相关的视网膜退行性变是视力下降和 失明，在美国估计有50,000到10,000人受到影响 各州。有证据表明，至少有44个基因导致了非综合征性RP，Usher 综合征(RP和耳聋)或Bardet-Biedl综合征(RP，肥胖，多指， 身材矮小等。)其中，有21个已经通过连锁研究绘制了图谱。而当 调查员仍不确定案件所占的比例 因为从一些已识别的基因来看，似乎很明显，大约一半的基因 RP病例是由不明基因引起的。大约另外50个基因导致 相关视网膜疾病，如黄斑变性、静止夜 失明等；这些基因中约有一半仍未被识别。《少年派》 建议继续寻找导致RP和相关疾病的基因。这个 该方法首先选择候选基因，例如基于 它们在视网膜生理学中的已知作用，是因为它们的 同系物是低等动物视网膜疾病的已知原因，在它们的 视网膜特有的表达模式，或者因为它们在 根据连锁分析，已知含有未知的RP基因座的区域。这个 将分析候选基因以确定患者是否存在潜在的突变 患有RP或相关疾病。如果成功，这项研究将确定 其他基因导致各种形式的逆转录病毒及相关疾病。基因 鉴定具有潜在的临床益处。他们可以预测未来 价值，因为在特定突变和严重程度之间存在关联 视力丧失的症状。它们可能会对治疗产生影响，因为将 一组导致RP和相关视网膜疾病的基因缺陷将有助于 了解有缺陷的生化途径，并通过 了解可能开发的代理可以显示、停止或反转这些 致盲的疾病。

DESCRIPTION (Adapted from investigator's abstract): Retinitis pigmentosa (RP) and related retinal degenerations are a major cause of reduced vision an blindness, affecting an estimated 50,000 to 100,000 individuals in the United States. There is evidence for at least 44 genes causing nonsyndromic RP, Usher syndrome (RP and deafness), or Bardet-Biedl syndrome (RP, obesity, polydactyly, short stature, et al.) Of these, 21 have been mapped by linkage studies. While the investigator is still uncertain about the proportions of cases accounted for by some of the identified genes, it seems clear that about half of all cases of RP are due to unidentified genes. About 50 additional genes cause allied retinal diseases, such as macular degeneration, stationary night blindness, etc.; about half of these genes are still unidentified. The PI proposes to continue the search for genes causing RP and allied diseases. The approach begins by the selection of candidate genes based, for example, on their known role in the physiology of the retina, on the fact that their homologues are known causes of retinal disease in lower animals, on their retina-specific pattern of expression, or because of their locations within regions known to contain unidentified RP loci based on linage analyses. The candidate genes will be analyzed for potential mutations in patients afflicted with RP or a related disease. If successful, this research will identify additional genes causing forms of RP and allied diseases. The gene identifications have potential clinical benefits. They can have prognostic value, since there are correlations between specific mutations and the severity of visual loss. They can have implications for therapy, since cataloguing the set of gene defects that cause RP and related retinal disease will help in understanding the defective biochemical pathways, and it is through that knowledge that agents might be developed that show, stop, or reverse these blinding diseases.