Lanzuolo Chiara
CNR Institute of Cellular Biology and Neurobiology, IRCCS Santa Lucia Foundation, Via Del Fosso di Fiorano 64, 00143 Rome, Italy.
Comp Funct Genomics. 2012;2012:256892. doi: 10.1155/2012/256892. Epub 2012 Jun 18.
Epigenetic mechanisms, acting via chromatin organization, fix in time and space different transcriptional programs and contribute to the quality, stability, and heritability of cell-specific transcription programs. In the last years, great advances have been made in our understanding of mechanisms by which this occurs in normal subjects. However, only a small part of the complete picture has been revealed. Abnormal gene expression patterns are often implicated in the development of different diseases, and thus epigenetic studies from patients promise to fill an important lack of knowledge, deciphering aberrant molecular mechanisms at the basis of pathogenesis and diseases progression. The identification of epigenetic modifications that could be used as targets for therapeutic interventions could be particularly timely in the light of pharmacologically reversion of pathological perturbations, avoiding changes in DNA sequences. Here I discuss the available information on epigenetic mechanisms that, altered in neuromuscular disorders, could contribute to the progression of the disease.
表观遗传机制通过染色质组织起作用,在时间和空间上固定不同的转录程序,并对细胞特异性转录程序的质量、稳定性和遗传性产生影响。近年来,我们对正常个体中发生这种情况的机制的理解取得了巨大进展。然而,完整情况仅揭示了一小部分。异常的基因表达模式常与不同疾病的发生发展有关,因此对患者进行表观遗传学研究有望填补重要的知识空白,破译发病机制和疾病进展基础上的异常分子机制。鉴于病理扰动的药理学逆转,避免DNA序列改变,鉴定可作为治疗干预靶点的表观遗传修饰可能尤为及时。在此,我将讨论关于在神经肌肉疾病中发生改变、可能导致疾病进展的表观遗传机制的现有信息。