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Hutchinson-Gilford Progeria Syndrome (Hgps) and Application of Gene Therapy Based Crispr/Cas Technology as A Promising Innovative Treatment Approach

Author(s):

Mekha Rajeev, Chameli Ratan, Karthik Krishnan and Meenu Vijayan*   Pages 1 - 20 ( 20 )

Abstract:


Background: Hutchinson-Gilford progeria syndrome (HGPS), also known as progeria of childhood or progeria is a rare, rapid, autosomal dominant genetic disorder characterized by premature aging which occurs shortly after birth. HGPS occurs as a result of de novo point mutation in the gene recognized as LMNA gene that encodes two proteins, Lamin A protein and Lamin C protein which are the structural components of the nuclear envelope. Mutations in the gene trigger abnormal splicing and induce internal deletion of 50 amino acids leading to the development of a truncated form of Lamin A protein known as Progerin. Progerin generation can be considered the crucial step in HGPS since the protein is highly toxic to human cells, permanently farnesylated, and exhibits variation in several biochemical and structural properties within the individual. HGPS also produces complications such as skin alterations, growth failure, atherosclerosis, hair and fat loss, and bone and joint diseases. We have also revised all relevant patents relating to Hutchinson-Gilford progeria syndrome and its therapy in the current article.

Methods: The goal of the present review article is to provide information about Hutchinson- Gilford progeria syndrome (HGPS) and the use of CRISPR/Cas technology as a promising treatment approach in the treatment of the disease. The review also discusses about different pharmacological and non-pharmacological methods of treatment currently used for HGPS.

Results: The main limitation associated with progeria is the lack of a definitive cure. The existing treatment modality provides only symptomatic relief. Therefore, it is high time to develop a therapeutic method that hastens premature aging in such patients.

Conclusion: CRISPR/Cas technology is a novel gene-editing tool that allows genome editing at specific loci and is found to be a promising therapeutic approach for the treatment of genetic disorders such as HGPS where dominant-negative mutations take place.

Keywords:

Hutchinson-gilford progeria syndrome (HGPS), LMNA gene, progerin, CRISPR/CAS system, lamin A protein, lamin C protein.

Affiliation:

Amrita School of Pharmacy, Amrita Vihwa Vidyapeetham, AIMS Health Science Campus, Ponekkara P. O., Kochi, Kerala 682041, Amrita School of Pharmacy, Amrita Vihwa Vidyapeetham, AIMS Health Science Campus, Ponekkara P. O., Kochi, Kerala 682041, Amrita School of Pharmacy, Amrita Vihwa Vidyapeetham, AIMS Health Science Campus, Ponekkara P. O., Kochi, Kerala 682041, Amrita School of Pharmacy, Amrita Vihwa Vidyapeetham, AIMS Health Science Campus, Ponekkara P. O., Kochi, Kerala 682041



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