Article
A case of Werner syndrome without metabolic abnormality: implications for the early pathophysiology.
Geriatrics & gerontology international - 1 Jan 2012
Takada-Watanabe Aki, Yokote Koutaro, Takemoto Minoru, Fujimoto Masaki, Irisuna Hiroki, Honjo Satoshi, Futami Kazunobu, Furuichi Yasuhiro, Saito Yasushi
Abstract excerpt
Werner syndrome (WS) is an autosomal recessive progeroid disorder caused by mutations in the WRN DNA helicase. It is characterized by the graying and loss of hair, juvenile cataracts, sclerosis and ulceration of skin, insulin-resistant diabetes mellitus, dyslipidemia, abdominal adiposity, osteoporosis, atherosclerosis, and malignant neoplasm. Patients are usually diagnosed in their 30s or 40s, but the early...
Topics
- Adult
- DNA Mutational Analysis
- Exodeoxyribonucleases
- Female
- Follow-Up Studies
- Humans
- Insulin Resistance
- Mutation
- RecQ Helicases
- Werner Syndrome
- Werner Syndrome Helicase