title: A patient with Werner syndrome and adiponectin gene mutation.
abstract: Werner syndrome is a premature aging disease characterized by genomic instability and increased cancer risk. Here, we report a 45-year-old diabetic man as the first Werner syndrome patient found to have an adiponectin gene mutation. Showing graying and loss of hair, skin atrophy, and juvenile cataract, he was diagnosed with Werner syndrome type 4 by molecular analysis. His serum adiponectin concentration was low. In the globular domain of the adiponectin gene, I164T in exon 3 was detected. When we examined effects of pioglitazone (15 mg/day) on serum adiponectin multimer and monomer concentrations using selective assays, the patient's relative percentage increased in adiponectin concentration was almost same as that in the 18 diabetic patients without an adiponectin mutation, but the absolute adiponectin concentration was half of those seen in diabetic patients treated with the same pioglitazone dose who had no adiponectin mutation. The response suggested that pioglitazone treatment might help to prevent future Werner syndrome-related acceleration of atherosclerosis. Present and further clinical relevant to atherosclerosis in this patient should be imformative concerning the pathogenesis and treatment of atherosclerosis in the presence of hypoadiponectinemia and insulin resistance.
authors.affiliation: Department of Internal Medicine, Asahi General Hospital, I-1326, Asahi, Chiba 289-2511, Japan. naohasi@hospital.asahi.chiba.jp
authors.forename: Naotake
authors.initials: N
authors.lastname: Hashimoto
authors.forename: Sachiko
authors.initials: S
authors.lastname: Hatanaka
authors.forename: Koutaro
authors.initials: K
authors.lastname: Yokote
authors.forename: Hiroko
authors.initials: H
authors.lastname: Kurosawa
authors.forename: Tomohiko
authors.initials: T
authors.lastname: Yoshida
authors.forename: Rie
authors.initials: R
authors.lastname: Iwai
authors.forename: Hidenori
authors.initials: H
authors.lastname: Takahashi
authors.forename: Katsuya
authors.initials: K
authors.lastname: Yoshida
authors.forename: Atsuya
authors.initials: A
authors.lastname: Horie
authors.forename: Kenichi
authors.initials: K
authors.lastname: Sakurai
authors.forename: Kazuo
authors.initials: K
authors.lastname: Yagui
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Saito
authors.forename: Shouji
authors.initials: S
authors.lastname: Yoshida
mesh_terms: D052242:Adiponectin / Q000235:genetics*; D003920:Diabetes Mellitus / Q000235:genetics; D005260:Female; D005786:Gene Expression Regulation / Q000187:drug effects; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D000077205:Pioglitazone; D045162:Thiazolidinediones / Q000494:pharmacology; D014898:Werner Syndrome / Q000235:genetics*
chemical_list: D052242:Adiponectin; D045162:Thiazolidinediones; D000077205:Pioglitazone