نتایج جستجو برای: progeria
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background: progeria syndrome is a very rare genetic disorder with an incidence of 1 in 8 million live births that is probably due to autosomal dominant mutation. clinical presentations show features of premature aging, growth failure, characteristic face, alopecia, loss of subcutaneous fat and stiffness of a joint that all become apparent during the 2nd year of life. the aim of this case repor...
Progeria is characterized by clinical features that mimic premature ageing. Although the mutation responsible for this syndrome has been deciphered, the mechanism of its action remains elusive. Progeria research has gained momentum particularly in the last two decades because of the possibility of revealing evidences about the ageing process in normal and other pathophysiological conditions. Va...
Background—Progerin is a mutant form of lamin A responsible for Hutchinson-Gilford progeria
Hutchinson-Gilford Progeria (acute premature aging) is caused by a de novo point mutation in the lamin A gene. Recently, this has been accurately corrected base editing patient cell lines and mouse model, resulting nearly complete reversal to normal phenotype. This success opens perspective for clinical applications other diseases.
The Hutchinson-Gilford syndrome or progeria is a laminopathy generated by mutations that affect LMNA gene. This produces an abnormal protein named progerine which alters the formation of the cellular membrane inducing premature aging of all cells. In the present review aspects related to the pathophysiology and clinical characteristics of this syndrome are shown.
Aging is a process in which continuous failure of maintenance and repair mechanism occurs which are very important for cellular homeostasis. Antioxidants and growth hormone regulators are used to decrease the process of longevity or abnormal aging. Protandim and nuclear factor 2 (Nrf2) are used as super antioxidant to minimise the oxidative stress in the body. Some aging syndromes are also ther...
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