Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Arts syndrome


Other Names for this Disease

  • ARTS
  • Lethal ataxia with deafness and optic atrophy
  • Lethal ataxia-deafness-optic atrophy
  • X-linked fatal ataxia with deafness and loss of vision
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Cause

Newline Maker

What causes Arts syndrome?

Arts syndrome is caused by mutations in the PRPS1 gene. This gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme is involved in producing purines and pyrimidines, the building blocks of DNA, RNA, and molecules such as ATP and GTP that serve as energy sources in the cell.[1]

The PRPS1 mutations that cause Arts syndrome replace one protein building block (amino acid) with another amino acid in the PRPP synthetase 1 enzyme. The resulting enzyme is likely unstable, compromising its ability to perform its normal function. The disruption of purine and pyrimidine production may impair energy storage and transport in cells. Impairment of these processes may have a particularly severe effect on tissues that require a large amount of energy, such as the nervous system and the immune system, resulting in the neurological problems and immune dysfunction characteristic of Arts syndrome.[1] 
Last updated: 4/8/2014

References
  1. Arts syndrome. Genetics Home Reference (GHR). August 2009; http://ghr.nlm.nih.gov/condition/arts-syndrome. Accessed 4/8/2014.


Other Names for this Disease
  • ARTS
  • Lethal ataxia with deafness and optic atrophy
  • Lethal ataxia-deafness-optic atrophy
  • X-linked fatal ataxia with deafness and loss of vision
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.