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Nature. 1997 Nov 6;390(6655):18-9.
Mutation of the mouse klotho gene leads to a syndrome resembling ageing.
Kuro-o M,
Matsumura Y,
Aizawa H,
Kawaguchi H,
Suga T,
Utsugi T,
Ohyama Y,
Kurabayashi M,
Kaname T,
Kume E,
Iwasaki H,
Iida A,
Shiraki-Iida T,
Nishikawa S,
Nagai R,
Nabeshima YI.
Division of Molecular Genetics, National Institute of Neuroscience, Kodaira, Tokyo, Japan. kuroo@ncnaxp.ncnp.go.jp
A new gene, termed klotho, has been identified that is involved in the suppression of several ageing phenotypes. A defect in klotho gene expression in the mouse results in a syndrome that resembles human ageing, including a short lifespan, infertility, arteriosclerosis, skin atrophy, osteoporosis and emphysema. The gene encodes a membrane protein that shares sequence similarity with the beta-glucosidase enzymes. The klotho gene product may function as part of a signalling pathway that regulates ageing in vivo and morbidity in age-related diseases.
PMID: 9363890 [PubMed - indexed for MEDLINE]