The Role of Mutation and Epimutation in the Development of Human Disease

摘要: The paradigm of disease causation holds that represents the manifestation or several manifestations an underlying process has one more root causes. Thus, human diseases reflect a spectrum pathologies and mechanisms pathogenesis. general categories affecting humans include (a) hereditary diseases, (b) infectious (c) inflammatory (d) neoplastic diseases. Pathological conditions representing each these have been described for every tissue in body. Despite grouping by common features type, pathogenesis various is unique, some cases multiple can give rise to similar pathology (disease manifestation). Disease may be related intrinsic factors extrinsic factors, but many most are multifactorial, involving combination factors. It now well recognized major ultimately result aberrant gene expression susceptibility significantly influenced patterns target cells tissues particular type pathology. follows mutations other genetic alterations important Similarly, nongenetic key genes, called epimutations, also contribute genesis at sites. In this chapter, concepts molecular basis types reviewed. This review not intended comprehensive. Rather, current state understanding genes (genetic epigenetic) illustrative described.