FSHD Bioresources Core

核心A FSHD生物资源核心 在FSHD及其分子和细胞中尚未发现致病基因(S) 病理生理学仍不清楚。此外，复杂的遗传和表观遗传变化 排除了开发具有代表性的动物模型的可能性。因此，获取大型 大量具有良好特征的、来自患者的生物样本仍然是推动FSHD的关键 研究。拟议的FSHD生物资源核心的总体目标是生成具有良好特性的 生物资源，以标准化方式收集，这将有助于该方案 该项目提出的四项科学研究达到了它们提出的目标。为此，我们将生成 生物资源集来自a)FSHD1受试者，b)FSHD2(表型)受试者和c) 正常对照受试者。每组将包括一个快速冷冻的肌肉样本，一个成肌细胞系 和皮肤来源的成纤维细胞系。将对每个受试者进行全面的基因分型 FSHD区域，以总体疾病严重程度、肌群力量为临床特征 以及邻近肌肉活检的病理分级 样本。

CORE A FSHD BIORESOURCES CORE No pathogenic gene(s) have been identified in FSHD and the molecular and cellular pathophysiology remains unclear. Moreover, the complex genetic and epigenetic changes have precluded the development of a representative animal model. Consequently, access to large numbers of well-characterized, patient-derived biological samples remains vital in advancing FSHD research. The overall aim of the proposed FSHD Bioresources Core is to generate wellcharacterized biological resources, collected in a standardized way and that will assist the Program Project's four proposed scientific studies achieve their proposed aims. To this end we will generate sets of biological resources from a) FSHDl subjects, b) FSHD2 (phenotypic) subjects and c) normal control subjects. Each set will include a flash-frozen muscle sample, a myoblast cell line and a skin-derived fibroblast cell line. Each subject will be comprehensively genotyped for the FSHD region and clinically characterized for overall disease severity, strength of the muscle group from which the sample is derived as well as pathologic grading of an adjacent muscle biopsy sample.