BACKGROUND Hutchinson-Gilford progeria syndrome (HGPS), also known as progeria, is due to a mutation in the LMNA gene, resulting in a life expectancy of no more than 13 years, and a high mortality rate due to cardiovascular disease. We report the case of a 13-year-old boy from Thailand...
Cardiovascular disease is enviable in HGPS and is the primary cause of premature death at an average age of 14.6 years. The genetic change responsible for HGPS is a sporadic point mutation that leads to a cryptic splice site in the lamin A gene, LMNA. Lamin A is an intermediate filament ...
Aging is the main risk factor for cardiovascular disease (CVD). The increased prevalence of CVD is partly due to the global increase in life expectancy. In this context, it is essential to identify the mechanisms by which aging induces CVD, with the ultimate aim of reducing its incidence. ...
Hutchinson-Gilford Progeria Syndrome is disease of highly accelerated aging. In addition to appearing physically old mere months after birth, patients suffer from maladies typical of the elderly, including heart attack and stroke, two factors which contribute to an average life expectancy of 14 years...
Hutchinson-Gilford progeria syndrome (HGPS) is a rare human genetic disease that leads to a severe premature ageing phenotype, caused by mutations in the LMNA gene. The LMNA gene codes for lamin-A and lamin-C proteins, which are structural components of the nuclear lamina. HGPS is usually ...
Hutchinson鈥揋ilford progeria syndrome is an extremely rare genetic disease caused by a de novo mutation in the LMNA gene, leading to an accumulation of a form of Lamin A, called Progerin, which results in a typical phenotype and a marked decrease in life expectancy, due to early ...
Hutchinson-Gilford progeria syndrome is a rare dominant human disease of genetic origin. The average life expectancy is about 20 years, patients' life quality is still very poor and no efficient therapy has yet been developed. It is caused by mutation of the LMNA gene, which results in ...