Progeria: A Rare Genetic Syndrome

Indian journal of clinical biochemistry

article

Veena Sharma¹  Richa Shukla¹ 

[1]Department of Bioscience and Biotechnology, Banasthali University

关键词: Hutchinson–Gilford Progeria Syndrome Prelamin-A Progerin;   

DOI  :  10.1007/s12291-019-00849-6

来源: Springer

【 摘 要 】

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.

【 授权许可】

Unknown