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

Nature. 1997 Nov 6;390(6655):45-51. doi: 10.1038/36285.

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.

MeSH terms

  • Aging / genetics*
  • Aging / pathology
  • Amino Acid Sequence
  • Animals
  • Arteriosclerosis / genetics
  • Arteriosclerosis / pathology
  • Atrophy
  • Calcinosis / genetics
  • Calcinosis / pathology
  • Cloning, Molecular
  • Emphysema / genetics
  • Female
  • Genitalia / pathology
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Membrane Proteins / physiology
  • Mice
  • Mice, Inbred BALB C
  • Mice, Inbred C3H
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • Molecular Sequence Data
  • Mutagenesis, Insertional
  • Osteoporosis / genetics
  • Osteoporosis / pathology
  • Phenotype
  • Pituitary Gland / pathology
  • Sequence Homology, Amino Acid
  • Skin / pathology
  • Syndrome
  • Thymus Gland / pathology

Substances

  • Membrane Proteins

Associated data

  • GENBANK/AB005141
  • GENBANK/AB005142
  • GENBANK/AB010088
  • GENBANK/AB010089
  • GENBANK/AB010090
  • GENBANK/AB010091