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Chaithanya K.J.*, Spurthi B.S. and Narayan Sah Sonar


The premature ageing disorder Hutchinson - Gilford Progeria syndrome (HGPS) is one of the orphan (rarest) human diseases The Classic type of Progeria is HGPS. In humans hundreds of mutations in LMNA gene have been identified which causes several diseases termed as laminopathies. Products of LMNA gene primarily lamin A and C are key components of the nuclear lamina, a proteinaceous mesh work of inner nuclear membrane. Classic HGPS is caused by a de novo point mutation in exon 11(Residue 1824 C to T) of the LMNA gene which results in the production of mutant lamin A protein termed as 'Progerin'. In particular, progerin accumulation elicits nuclear morphological abnormalities. HGPS is characterized by the presence of aging associated symptoms, including loss of subcutaneous fat, alopecia, cardiovascular Pathology and death due to myocardial infarction and stroke in childhood. Laboratory findings are unremarkable, with the exception of an increased urinary excretion of hyaluronic acid. Without progerin - specific treatment death occurs at an average age of 14.6 years from accelerated atherosclerosis. Supportive therapy like vitamin supplementation, Nutrini, pro-cal are recommended. Treatment usually includes low dose aspirin, lonafarnib, zoledronic acid, pravastatin, gene therapy and RNA therapy.

Keywords: Progeria, Hutchinson -Gilford Progeria Syndrome (HGPS), Orphan disease, gene LMNA, Laminopathies, gene therapy.

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