OBJECTIVE:To retrospect the experiments and clinical research on tropomyosin(TM) and make sure the 4 genes of TM in mammals and the relationship between its gene mutation and weakness of skeletal muscle as well as hypertrophic cardiomyopathy in order to provide support for preventative measures and rehabilitation interventions. DATA SOURCES:Conducting computerized search on experiments and clinical reports from January 1987 to Augsut 2004 regarding TM to Medline and Wanfang Database.The key searching words of " tropomyosin, gene, mutation" both in English and Chinese were used with the restricted language of English and Chinese respectively. DATA SELECTION:The fiirst trial was conducted to the found literatures while the articles with " single case,experience" in title and non-research ones were excluded. Then full text of the rest reports was searched.Randomized control clinical trial(RCT) was used as the selective standard. DATA EXTRACTION:There were 30 articles found regarding the randomized and non-randomized trials on the research and advance of molecular biology of TM with 21 of them met the selective standard and 9 articles were excluded. DATA SYNTHESIS:The study showed that TM was an important regulatory protein for muscle contraction,which existed widely in various kinds of eukaryotes in the way of isomers. Four TM genes of mammals had been confirmed by which 20 TM isomers could be expressed.Different TM gene could induce different diseases respectively. CONCLUSION:At present,research of TM is not just limited to the process of muscle contraction,study on its effects on the conversion of vascular smooth muscle cell has been attached much attention.The application of gene engineering will essentially diagnose and cure the disease therefore medical behaviors and quality of life will be consequently changed.%目的 : 明确哺乳动物的 4个原肌球蛋白( TM)基因及其突变时与骨骼肌无力、肥大性心肌病的关系,以期为预防性措施和康复干预提供支持. 资料来源:应用计算机检索 Medline、万方数据库 1987- 01 /2004- 08期间有关 TM的实验及临床研究的研究原著,英文检索词" tropomyosin, gene, mutation";中文检索词"原肌球蛋白、基因、突变",限定语言种类为英文和中文. 资料选择:对检索到的文献进行初审,排除题目含"个案、经验、体会"等综述及非研究原著类的文章,然后对剩余文献查找原文,以是否为随机对照临床试验( RCT)作为纳入标准. 资料提炼:共收集到 30篇关于原肌球蛋白分子生物学的研究与进展的随机和非随机试验.其中 21篇符合纳入标准,排除 9篇. 资料综合:研究提示,原肌球蛋白( TM)是肌肉收缩过程中重要的调节蛋白质,它以大量异构体形式广泛分布于各种真核细胞中.哺乳动物中的 4个 TM基因已被确认,至少可表达出 20种 TM异构体.不同的 TM基因突变分别可引起不同的疾病. 结论: 4个已被确认的 TM基因分别命名为 TPM1, TPM2, TPM3, TPM4.其中 TPM1基因突变与家族性肥大性心肌病有关;而 TPM3基因突变与线状肌病和骨骼肌无力有关.目前,对 TM的研究已不仅仅局限在肌肉收缩过程中,其对血管平滑肌细胞类型转换的作用等研究已受到越来越广泛的关注.随着对 TM基因研究的不断深入, TM基因突变与各种疾病的关系会越来越明了,基因工程的应用将会从本质上诊治疾病,从而彻底地改变医学行为和患者的生活质量.
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