Cardiff University School of Medicine, School of Medicine Registry, Cardiff University, Heath Park, Cardiff CF14 4XN, United Kingdom.
Yale J Biol Med. 2011 Sep;84(3):311-9.
Trinucleotide repeat disorders are a set of genetic disorders characterized by the expansion of certain genes of a segment of DNA that contains a repeat of three nucleotides, thus exceeding the normal stable threshold. These repeats in the DNA cause repeats of a specific amino acid in the protein sequence, and it is the repeated amino acid that results in a defective protein. Huntington's disease is a well-known genetic disorder associated with trinucleotide repeat expansions. Patients first present clinically in midlife and manifest a typical phenotype of sporadic, rapid, and involuntary control of limb movement; stiffness of limbs; impaired cognition; severe psychiatric disturbances; and ultimately, death. There have been a number of therapeutic advances in the treatment of Huntington's disease, such as foetal neural transplantation, RNA interference, and transglutaminase inhibitor. Although there is intensive research into Huntington's disease and recent findings seem promising, effective therapeutic strategies may not be developed until the next few decades.
三核苷酸重复疾病是一组遗传性疾病,其特征是特定基因片段的 DNA 中含有三个核苷酸的重复扩展,从而超过正常稳定的阈值。这些 DNA 中的重复导致蛋白质序列中特定氨基酸的重复,正是重复的氨基酸导致了有缺陷的蛋白质。亨廷顿病是一种与三核苷酸重复扩展相关的著名遗传疾病。患者首先在中年出现临床症状,并表现出典型的散发性、快速、无意识的肢体运动控制障碍、肢体僵硬、认知障碍、严重的精神障碍以及最终死亡。亨廷顿病的治疗已经取得了一些进展,如胎儿神经移植、RNA 干扰和转谷氨酰胺酶抑制剂。尽管对亨廷顿病进行了大量研究,最近的发现似乎很有希望,但有效的治疗策略可能要到未来几十年才会开发出来。