Acrogeria with decreased gene expression of alpha1 (I) and alpha1 (III) collagen in cultured dermal fibroblasts.
We report a case of acrogeria. A 47-year-old Japanese man presented with micrognathism, thin lips, radial wrinkles around his month, atrophy of skin and subcutaneous tissue, and mottled hyperpigmentation on his extremities. A biopsy of the lesional skin showed flat epidermis and atrophy of the dermal layer. The in vitro life span of the patient's fibroblasts (18+/-2.2 PDL) was significantly shorter than that of control fibroblasts (42+/-3.5 PDL). The early-passage fibroblasts from the patient showed abnormal morphology which was also seen in the late-passage (in vitro aging) of normal fibroblasts. In northern blotting analysis of cultured dermal fibroblasts, mRNA levels of alpha1 (I) collagen and alpha1 (III) collagen were markedly reduced. These results revealed that patient fibroblasts might be in severe senescence in vitro and contribute to the phenotypes of this premature aging syndrome.
Wu
Jinghai
J
Department of Molecular Genetics, College of Medicine, University of Cincinnati, Cincinnati, OH 45267, USA.
Hatamochi
Atsushi
A
D001707:Biopsy, Needle; D015152:Blotting, Northern; D002478:Cells, Cultured; D003094:Collagen / Q000145:classification / Q000378:metabolism*; D005347:Fibroblasts / Q000502:physiology; D005500:Follow-Up Studies; D005786:Gene Expression Regulation; D006801:Humans; D007150:Immunohistochemistry; D007564:Japan; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011371:Progeria / Q000235:genetics* / Q000473:pathology*; D012333:RNA, Messenger / Q000032:analysis; D018570:Risk Assessment; D012720:Severity of Illness Index
D012333:RNA, Messenger; D003094:Collagen