Progeroid Syndromes Lamin

Several atypical progeroid syndromes also called nonclassical progeria atypical hgps or atypical werner syndrome are not caused by progerin producing lmna mutations but result from over 20 different heterozygous homozygous or compound heterozygous mutations in the lmna gene.

Progeroid syndromes lamin. Two progeroid premature aging syndromes hutchinson gilford progeria hgps cao and hegele 2003. Cells from affected individuals express a mutant version of the nuclear envelope protein lamin a termed progerin and have. The prevalent mutation results in the production of a mutant lamin a protein with an internal 50 amino acid deletion which causes a cellular aging phenotype characterized by growth defects limited replicative lifespan and nuclear membrane abnormalities. Navarro et al 2004 are laminopathies that arise through defects in maturation of the lamin a precursor prelamin a.

The term progeroid syndrome does not necessarily imply progeria hutchinson gilford progeria syndrome which is a specific type of progeroid syndrome. Progeroid syndromes ps are a group of rare genetic disorders which mimic physiological aging making affected individuals appear to be older than they are. Hutchinson gilford progeria syndrome hgps is a progeroid disease characterized by the early onset of age related phenotypes including arthritis loss of body fat and hair and atherosclerosis. Progeroid means resembling premature aging a definition that can apply to a.

Involvement of lamin a in the ageing process became clear after the discovery that a group of progeroid syndromes currently referred to as progeroid laminopathies are caused by mutations in lmna gene. Atypical progeroid syndrome aps including atypical werner syndrome aws is a progeroid syndrome involving heterozygous mutations in the lmna gene encoding the nuclear protein lamin a c. Those born with progeria typically live to their mid teens to early twenties. A second group of progeroid syndromes called progeroid laminopathies were later identified which are caused by mutations in genes encoding a type lamins or the enzyme zmpste24 essential for a type lamin processing 4 6.

Progeria is one of several progeroid syndromes. Progeria is an extremely rare autosomal dominant genetic disorder in which symptoms resembling aspects of aging are manifested at a very early age. It is a genetic condition that occurs as a new mutation and is rarely inherited as carriers usually do not live to. Navarro et al 2005.

Fabio coppedè in encyclopedia of endocrine diseases second edition 2016. We report the first japanese case of aps aws with a lmna mutation p d300n. A 53 year old japanese man had a. Mutations in the lamin a c gene cause the rare genetic disorder hutchinson gilford progeria syndrome hgps.

Eriksson et al 2003 and restrictive dermopathy rd moulson et al 2005.