Mucolipin, TRPs and Human Disease

描述（申请人提供）： IV型粘脂沉积症（MLIV; MIM 252650）是一种溶酶体贮积症， 以严重的神经和眼科异常为特征。这是一个 进行性疾病，通常出现在生命的第一年， 智力迟钝、角膜混浊和运动里程碑延迟。儿童 MLIV通常达到15个月的最大发育水平， 语言和运动功能，最终完全失明。这是一种罕见 常染色体隐性遗传病和大多数患者诊断日期是 德系犹太人后裔目前还没有治疗这种悲惨的 disorder. 六个月前，三个独立的小组报告了MLIV基因的克隆， MCOLN 1. MCOLN 1是瞬时受体电位（TRP）阳离子的新成员 通道基因家族MCOLN 1编码一种叫做粘脂的蛋白质， 其他TRP基因，有六个预测的跨膜结构域和一个假定的通道 毛孔MCOLN 1中突变的鉴定代表了 一种由TRP相关通道引起的神经系统疾病。TRP基因首先是 在果蝇中描述，同源克隆导致了对 整个哺乳动物TRP基因家族。这个基因家族的一个成员PKD 2， 常染色体显性遗传性多囊肾病（ADPKD）PKD 2是 自1996年克隆以来， 了解这个基因的功能。 MCOLN 1和PKD 2共同说明了TRP基因家族在肿瘤发生中的重要性。 人类健康和疾病。本次研讨会的目的是汇集 与TRP通道领域的专家一起研究MLIV和PKD的科学家 特征化最近克隆的MCOLN 1，加上事实上，它 是一个快速增长和研究充分的基因家族的成员，提供了 这次研讨会的理由。此外，更好地了解 粘脂蛋白的功能为MLIV家族提供了有效治疗的希望。 治疗旨在消除这种破坏性的异常细胞储存， 疾病我们相信，这次研讨会将结合最先进的 从三个学科的信息，促进合作， 研究人员，并确定有前途的新途径的研究。

DESCRIPTION (Provided By Applicant): Mucolipidosis Type IV (MLIV; MIM 252650) is a lysosomal storage disorder that is characterized by severe neurologic and ophthalmologic abnormalities. It is a progressive disease that usually presents during the first year of life with mental retardation, corneal opacities, and delayed motor milestones. Children with MLIV typically reach a maximum developmental level of 15 months in language and motor function, and are eventually totally blind. It is a rare autosomal recessive disease and the majority of patients diagnosed to date are of Ashkenazi Jewish descent. There is currently no treatment for this tragic disorder. Six months ago, three independent groups reported the cloning of the MLIV gene, MCOLN1. MCOLN1 is a new member of the Transient Receptor Potential (TRP) cation channel gene family. MCOLN1 encodes a protein called mucolipin that, like the other TRP genes, has six predicted transmembrane domains and a putative channel pore. The identification of mutations in MCOLN1 represents the first example of a neurological disease caused by a TRP-related channel. TRP genes were first described in Drosophila, and homology cloning has led to the identification of an entire mammalian TRP gene family. One member of this gene family, PKD2, is responsible for autosomal dominant polycystic kidney disease (ADPKD). PKD2 was cloned in 1996 and since that time, considerable progress has been made towards understanding the function of this gene. Together, MCOLN1 and PKD2 illustrate the importance of the TRP gene family in human health and disease. The goal of this workshop is to bring together scientists that work on MLIV and PKD with experts from the field of TRP channel characterization. The recent cloning of MCOLN1, coupled with the fact that it is a member of a rapidly growing and well-studied gene family, provides the justification for this workshop. In addition, a better understanding of the function of mucolipin provides hope to the MLIV families for an effective treatment aimed at abolishing the abnormal cellular storage in this devastating disease. We are certain that this workshop will integrate the most up-to-date information from the three disciplines, foster collaborations among researchers, and identify promising new avenues for research.