[Multifactorial disorder: molecular and evolutionary insights of uric acid nephrolithiasis]

Minerva Med. 2005 Dec;96(6):409-16.
[Article in Italian]

Abstract

Nephrolithiasis is a common multifactorial disorder affecting about 10% of the Western populations and it is characterized by the presence of small crystals and stones in the urinary tract. Uric acid nephrolithiasis (UAN) accounts for 20% of all stones but its prevalence varies between countries. Nephrolithiasis is likely caused by several factors but a genetic component has clearly been demonstrated. While studying an ancient founder population in Sardinia, we recently identified a susceptibility locus for UAN on chromosome 10. In this region we identified a missense mutation in a specific isoform of a novel gene is strongly associated with UAN. Through a comparative genomic approach, we did not found a mouse homolog even if we were able to identify the corresponding genomic region, while in Old World monkey we found a canonical gene structure with several stop codons preventing protein production. We detected expression in New World monkeys while in humans we observe a functional protein. It seems, therefore, that, to avoid human disease, a fierce selection worked to develop a renal-haematic urate homeostasis system against excessive hyperuricaemia. ZNF365 emerged during primate evolution and assumed its role in parallel with the disappearance of uricase, probably against a disadvantageous excessive hyperuricaemia.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Animals
  • Biological Evolution
  • Cercopithecidae
  • Chromosomes, Human, Pair 10 / genetics*
  • Disease Susceptibility
  • Humans
  • Kidney Calculi / chemistry*
  • Kidney Calculi / genetics*
  • Mice
  • Mutation, Missense / genetics*
  • Uric Acid / metabolism*

Substances

  • Uric Acid