Human laminopathies: nuclei gone genetically awry.
Few genes have generated as much recent interest as LMNA, LMNB1 and LMNB2, which encode the components of the nuclear lamina. Over 180 mutations in these genes are associated with at least 13 known diseases--the laminopathies. In particular, the study of LMNA, its products and the phenotypes that result from its mutation have provided important insights into subjects ranging from transcriptional regulation, the cell biology of the nuclear lamina and mechanisms of ageing. Recent studies have begun the difficult task of correlating the genotypes of laminopathies with their phenotypes, and potential therapeutic strategies using existing drugs, modified oligonucleotides and RNAi are showing real promise for the treatment of these diseases.
Capell
Brian C
BC
Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, 50 South Drive MSC8004, Bethesda, Maryland 20892-8004, USA.
Collins
Francis S
FS
D019588:Aging, Premature / Q000235:genetics*; D000818:Animals; D002311:Cardiomyopathy, Dilated / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002642:Chick Embryo; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D004195:Disease Models, Animal; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D052496:Lipodystrophy, Familial Partial / Q000235:genetics; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics*; D009154:Mutation; D034881:Nuclear Lamina / Q000235:genetics*
D034904:Lamin Type A