4.4 Review

Progeria-a Rare Genetic Condition with Accelerated Ageing Process

Journal

APPLIED BIOCHEMISTRY AND BIOTECHNOLOGY
Volume 195, Issue 4, Pages 2587-2596

Publisher

SPRINGER
DOI: 10.1007/s12010-021-03514-y

Keywords

Progerin; Lamin A; Clinical trials; Experimental models; Translational; Hutchinson-Gilford progeria syndrome (HGPS); Lonafarnib

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Hutchinson-Gilford progeria syndrome is a rare genetic disease characterized by accelerated aging and reduced life span. Research is being conducted to understand the causes of this disease and develop treatment options, but the success rate is low.
Progeria is a rare genetic disease which is characterised by accelerated ageing and reduced life span. There are differing types of progeria, but the classic type is Hutchinson-Gilford progeria syndrome (HGPS). Within a year of birth, people suffering from it start showing several features such as very low weight, scleroderma, osteoporosis and loss of hair. Their life expectancy is highly reduced and the average life span is around 14.6 years. Research is going on to understand the genetic and molecular level causes of this disease. Apart from that, several studies are also going on to discover therapeutic techniques and drugs to treat this disease but the success rate is very low. To gain a better understanding about research developments of progeria more experimental models, drugs and molecular technologies are under trial. Different important aspects and recent developments in epidemiology, genetic causes, symptoms, diagnosis and treatment options of progeria are discussed in this review.

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