Mohammed et al., "Hutchinson-Gilford progeria syndrome: Clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature," British Journal of Dermatology, vol.
Toth et al., "Blocking protein farnesyltransferase improves nuclear blebbing in mouse fibroblasts with a targeted Hutchinson-Gilford progeria syndrome mutation," Proceedings of the National Acadamy of Sciences of the United States of America, vol.
Rapamycin, an immunosuppressant drug, could treat Hutchinson-Gilford progeria syndrome
(progeria), according to a recent study published in Science Translational Medicine.
"Over the last few years, our knowledge of the molecular mechanisms underlying human aging has benefited from studies of premature-aging syndromes, such as Hutchinson-Gilford Progeria syndrome
, that cause the early development of characteristics normally associated with advanced age," he added.
Older dads also have a higher risk of fathering children with rare mutations that cause dwarfism or a premature aging disease called Hutchinson-Gilford progeria syndrome
Progeria, also known as Hutchinson-Gilford Progeria Syndrome
(HGPS), is a rare and fatal genetic condition characterised by accelerated ageing in children.
While investigators continue to debate exactly how well this so-called Hutchinson-Gilford progeria syndrome mirrors normal aging, many are convinced that the newly discovered mutation could provide insight into the process.
Hutchinson-Gilford progeria syndrome, also known simply as progeria--Greek for early aging--affects only an estimated 1 in 4 million children.
(NASDAQ: EIGR) has received minutes from a pre-investigational new drug (pre-IND) meeting with the Division of Gastroenterology and Inborn Errors Products of the US Food and Drug Administration for lonafarnib in the treatment of Hutchinson-Gilford Progeria Syndrome (HGPS or Progeria), the company said.
Progeria, also known as Hutchinson-Gilford Progeria Syndrome, is a rare and rapidly fatal genetic condition of accelerated aging in children caused by a point mutation in the lamin A gene yielding the farnesylated aberrant protein, progerin.