Sharma Veena, Shukla Richa
Department of Bioscience and Biotechnology, Banasthali University, Niwai, Tonk, Rajasthan 304022 India.
Indian J Clin Biochem. 2020 Jan;35(1):3-7. doi: 10.1007/s12291-019-00849-6. Epub 2019 Sep 25.
An uncommon deadly genetic situation symbolized by the presence of rapid maturation in infants is called as the Hutchinson-Gilford Progeria Syndrome. The term basically is meant as 'prematurely old' taken from the Greek meanings. The selective cause behind this syndrome is usually a mutation in a gene called LMNA. The product of this LMNA gene which is a protein i.e. Lamin-A is considered to be responsible for anatomical framing which clasps the nuclei of the cell, well organized and together. But, the recent investigations prove a deformity in the protein i.e. Lamin-A that leads to the non-stability of the nuclei an thus gives rise to the deadly situation of untimely ageing in the children popularly known as Progeria. The literature review investigation provided pivotal information about the therapeutic researches related to the syndrome, the mutational causes and the basic information including the major and minor symptoms generally shown by the patients affected with Hutchinson-Gilford Progeria Syndrome. Investigations on this rare, uncommon disease i.e. Progeria had begun a couple of years back and in some of the researches many important aspects about the causes and possible curative drugs related to the disease which can help the patients in leading a normal life with lesser side effects and symptoms have also been discussed. Further studies will more clearly clarify the possible curative agents and unrevealed mechanisms of the disease which will help the scientists to develop measures which can provide more beneficial and healthy life to the patients with lesser complications.
一种以婴儿快速成熟为特征的罕见致命遗传疾病被称为哈钦森-吉尔福德早衰综合征。这个术语基本上是从希腊语含义中取来的“过早衰老”之意。这种综合征背后的选择性病因通常是一种名为LMNA的基因突变。这个LMNA基因的产物是一种蛋白质,即核纤层蛋白A,它被认为负责构建包裹细胞核的结构,使其组织有序且紧密相连。但是,最近的研究证明核纤层蛋白A这种蛋白质存在畸形,这导致细胞核不稳定,从而引发了儿童过早衰老的致命状况,即早衰症。文献综述研究提供了有关该综合征的治疗研究、突变原因以及基本信息的关键信息,包括患有哈钦森-吉尔福德早衰综合征的患者通常表现出的主要和次要症状。对这种罕见疾病即早衰症的研究在几年前就已开始,并且在一些研究中还讨论了关于该疾病的病因以及可能的治疗药物的许多重要方面,这些药物可以帮助患者以较少的副作用和症状过上正常生活。进一步的研究将更清楚地阐明该疾病可能的治疗药物和未揭示的机制,这将有助于科学家制定措施,为患者提供更有益健康且并发症更少的生活。