Homo sapiens Raw sequence reads. Homo sapiens

Parkinsonism is common neurodegeneration disease. In most cases, it is sporadic disorder, but there were described familial form. There are different causes, usually combination of many factors-environmental factors, epigenetics and genetic backround.The variants in genes which are associated with mitochondrial function and ubiquitination process could be an important risk factor for development parkinsonism.The aim of our study was assessment of the genetic background in patients from isolated region in the Czech Republic with higher prevalence of parkinsonism. We sequenced 15 genes which are associated with the disease using next generation sequencing, platform Ion Torrent.No founder pathogenic variant has been found in any of the probands. Besides, we found rarer genetic variants (very probably in haplotype), which cloud be potencial risk factor for parkinsonism development.

帕金森综合征（Parkinsonism）是一类常见的神经退行性疾病。多数情况下为散发性疾病，但也存在已被报道的家族性亚型。该病致病原因多样，通常是环境因素、表观遗传学（epigenetics）与遗传背景等多种因素共同作用的结果。与线粒体功能及泛素化过程（ubiquitination process）相关的基因变异，可能是帕金森综合征发病的重要危险因素。本研究旨在评估捷克共和国某帕金森综合征患病率较高的孤立地区患者的遗传背景。研究采用Ion Torrent平台的下一代测序（next generation sequencing）技术，对与该疾病相关的15个基因进行了测序。所有先证者（probands）均未发现致病性奠基者变异。此外，本研究还发现了罕见的基因变异（极有可能位于单体型（haplotype）区域内），这类变异可能成为帕金森综合征发病的潜在危险因素。