Skin Disease in Laminopathy-Associated Premature Aging.
The nuclear lamina, a protein network located under the nuclear membrane, has during the past decade found increasing interest due to its significant involvement in a range of genetic diseases, including the segmental premature aging syndromes Hutchinson-Gilford progeria syndrome, restrictive dermopathy, and atypical Werner syndrome. In this review we examine these diseases, some caused by mutations in the LMNA gene, and their skin disease features. Advances within this area might also provide novel insights into the biology of skin aging, as recent data suggest that low levels of progerin are expressed in unaffected individuals and these levels increase with aging.
Department of Biosciences and Nutrition, Center for Innovative Medicine, Karolinska Institutet, Huddinge, Sweden.
Tomás
T
McKenna
Department of Biosciences and Nutrition, Center for Innovative Medicine, Karolinska Institutet, Huddinge, Sweden.
Agustín
A
Sola Carvajal
Department of Biosciences and Nutrition, Center for Innovative Medicine, Karolinska Institutet, Huddinge, Sweden. Electronic address: Maria.Eriksson.2@ki.se.
Maria
M
Eriksson
D000328:Adult; D019588:Aging, Premature / Q000235:genetics* / Q000503:physiopathology; D000818:Animals; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D051379:Mice; D009154:Mutation; D011371:Progeria / Q000235:genetics* / Q000503:physiopathology; D011379:Prognosis; D035583:Rare Diseases; D012720:Severity of Illness Index; D015595:Skin Aging / Q000235:genetics*; D012871:Skin Diseases / Q000235:genetics / Q000503:physiopathology
C494847:LMNA protein, human; D034904:Lamin Type A