[Hutchinson-Gilford progeria in the light of contemporary genetics].
Hutchinson-Gilford progeria causing premature aging of children is a genetic disease and according to most authors has an autosomal dominant inheritance. It has been regarded as a model of the process of aging. In 2003 mutations in the LMNA gene, localized f in chromosome 1, responsible for the disease, were identified. The most frequent mutation is located in exon 11, C1824T and does not change glycin in position 608 of protein chain, but activates cryptic splice site. This results in shortened lamin A synthesis which is named progerin. Point mutations in other exons of LMNA, found in progeria patients, are responsible for atypical phenotypes.
Madej-Pilarczyk
Agnieszka
A
Zespół Badawczo-Leczniczy Chorób Nerwowo-Mieśniowych, Instytut Medycyny Doświadczalnej i Klinicznej im. M. Mossakowskiego, Polska Akademia Nauk, ul. Pawińskiego 5, 02-106 Warszawa, Poland. amadej@amwaw.edu.pl
D000375:Aging / Q000235:genetics; D000483:Alleles; D017398:Alternative Splicing / Q000235:genetics; D000818:Animals; D018095:Germ-Line Mutation; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D051379:Mice; D009154:Mutation / Q000235:genetics*; D011371:Progeria / Q000175:diagnosis / Q000235:genetics*
D034904:Lamin Type A