Noncoding variations in Cyp24a1 gene are associated with Klotho-mediated aging phenotypes in different strains of mice

Aging Cell. 2019 Jun;18(3):e12949. doi: 10.1111/acel.12949. Epub 2019 Mar 28.

Abstract

In mutant mice, reduced levels of Klotho promoted high levels of active vitamin D in the serum. Genetic or dietary manipulations that diminished active vitamin D alleviated aging-related phenotypes caused by Klotho down-regulation. The hypomorphic Klotho [kl/kl] allele that decreases Klotho expression in C3H, BALB/c, 129, and C57BL/6 genetic backgrounds substantially increases 1,25(OH)2D3 levels in the sera of susceptible C3H, BALB/c, and 129, but not C57BL/6 mice. This may be attributed to increased basal expression of Cyp24a1 in C57BL/6 mice, which promotes inactivation of 1,25(OH)2D3. Decreased expression of Cyp24a1 in susceptible strains was associated with genetic alterations in noncoding regions of Cyp24a1 gene, which were strongly reminiscent of super-enhancers that regulate gene expression. These observations suggest that higher basal expression of an enzyme required for catabolizing vitamin D renders B6-kl/kl mice less susceptible to changes in Klotho expression, providing a plausible explanation for the lack of aging phenotypes on C57BL/6 strain.

Keywords: aging; genetic background; klotho-hypomorphic allele; vitamin D metabolism.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Aging / genetics*
  • Animals
  • Glucuronidase / genetics*
  • Glucuronidase / metabolism
  • Klotho Proteins
  • Mice
  • Mice, Inbred BALB C
  • Mice, Inbred C3H
  • Mice, Inbred C57BL
  • Phenotype
  • Vitamin D3 24-Hydroxylase / genetics*
  • Vitamin D3 24-Hydroxylase / metabolism

Substances

  • Cyp24a1 protein, mouse
  • Vitamin D3 24-Hydroxylase
  • Glucuronidase
  • Klotho Proteins