Hutchinson–Gilford Progeria Syndrome (HGPS) – Molecular Analysis Of Cause, Background And Treatment

Abstract

HGPS, or "Hutchinson Gilford progeria syndrome," is a drastic rare genetic condition with extreme consequences. After birth, it causes premature and quick aging. By the presence of some type of symptoms and they are associated with aging, ‘HGPS’ is distinguished. Within the recent past in the ‘LMNA gene’, Individuals with HGPS have been shown to possess “de novo” point mutations, which denotes 2 important and major proteins and they spliced transcripts alternatively which bring about lamin A & C proteins. The role of lamins is very much relatable to the doorman of the genome itself and its contribution to disease is unimaginable. The most structurally important component of the nuclear envelope is class A lamins. It causes 11 different disease phenotypes, each with different severity and affected tissue. Here, we review mainly the features, inheritance, Lmna gene, and molecular genetics associated with HGPS. This noxious irremediable disease is the result of the silent alteration in the LMNA gene which makes a protein called “progerin”. Patients with HGPS, most of them die in their teenage due to cardiovascular disease (CVD). Till date, there are no permanent ways out or medical or genetical therapies that upgrade or brush up the disease progression. Luckily Rapamycin has recently been revealed to be effective for not only removing faulty protein, it also inhibiting the geroconversion process, and a new technology is known as the CRISPR/Cas system has been developed that allows for permanent genome editing at specified loci.