Srikrishna.T

Our life span is genetically programmed and it is possible that a defect in produced proteins encoded by the ‘longevity’ gene is a cause of aging. Progeria which is a rare, fatal genetic condition which affects between one in four million and one in eight million children of both sexes equally and characterized by premature and accelerated aging. The appearance and physiology of these children resembles to elderly people but they typically have life span to their mid teens. It is also known as the Hutchinson-Gilford syndrome, which was initially reported by Johnathan Hutchinson in 1886 and further described by Hastings Gilford in 1904. It is an autosomal recessive disorder, which means an individual has inherited a mutated gene from both parents. It is added to the expanding catalogue of ‘laminopathies’, diseases caused by mutations affecting nuclear lamina proteins known as lamin A (LMNA). Currently, there are about 50 known cases of Progeria in the world and most Progeria patients die at around 13 years of age. Treatment usually includes aspirin which helps prevent the atherothrombotic events, stroke and heart attacks by hindering platelet aggregation. Vitamin supplementation, Fluoride supplements are recommended. A Study of Zoledronic acid, Pravastatin, and Lonafarnib for Patients with Progeria is ongoing, it is under phase II.