Mutation of the mouse klotho gene leads to a syndrome resembling ageing.

Authors: 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

Abstract: 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.

Keywords: Aging/*genetics/pathology; Amino Acid Sequence; Animals; Arteriosclerosis/genetics/pathology; Atrophy; Calcinosis/genetics/pathology; Cloning, Molecular; Emphysema/genetics; Female; Genitalia/pathology; Humans; Male; Membrane Proteins/*genetics/physiology; Mice; Mice, Inbred BALB C; Mice, Inbred C3H; Mice, Inbred C57BL; Mice, Transgenic; Molecular Sequence Data; Mutagenesis, Insertional; Osteoporosis/genetics/pathology; Phenotype; Pituitary Gland/pathology; Sequence Homology, Amino Acid; Skin/pathology; Syndrome; Thymus Gland/pathology
Journal: Nature
Volume: 390
Issue: 6655
Pages: 45-51
Date: Nov. 18, 1997
PMID: 9363890
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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 (1997) Mutation of the mouse klotho gene leads to a syndrome resembling ageing. Nature 390: 45-51.

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