Conformational diseases: an umbrella for various neurological disorders with an impaired ubiquitin-proteasome system

Neurobiol Aging. 2006 Apr;27(4):515-23. doi: 10.1016/j.neurobiolaging.2005.04.016. Epub 2005 Oct 13.

Abstract

It is increasingly appreciated that failures in the ubiquitin-proteasome system play a pivotal role in the neuropathogenesis of many neurological disorders. This system, involved in protein quality control, should degrade misfolded proteins, but apparently during neuropathogenesis, it is unable to cope with a number of proteins that, by themselves, can consequently accumulate. Ubiquitin is essential for ATP-dependent protein degradation by the proteasome. Ubiquitin+1 (UBB+1) is generated by a dinucleotide deletion (DeltaGU) in UBB mRNA. The aberrant protein has a 19 amino acid extension and has lost the ability to ubiquitinate. Instead of targeting proteins for degradation, it has acquired a dual substrate-inhibitor function; ubiquitinated UBB+1 is a substrate for proteasomal degradation, but can at higher concentrations inhibit, proteasomal degradation. Furthermore, UBB+1 protein accumulates in neurons and glial cells in a disease-specific way, and this event is an indication for proteasomal dysfunction. Many neurological and non-neurological conformational diseases have the accumulation of misfolded proteins and of UBB+1 in common, and this combined accumulation results in the promotion of insoluble protein deposits and neuronal cell death as shown in a cellular model of Huntington's disease.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adenosine Triphosphate
  • Age Factors
  • Animals
  • Cell Aggregation / physiology
  • Cell Death
  • Humans
  • Nervous System Diseases / enzymology
  • Nervous System Diseases / genetics
  • Nervous System Diseases / metabolism*
  • Nervous System Diseases / physiopathology*
  • Proteasome Endopeptidase Complex / genetics
  • Proteasome Endopeptidase Complex / metabolism*
  • Sequence Deletion*
  • Ubiquitin / genetics
  • Ubiquitin / metabolism*

Substances

  • UBB protein, human
  • Ubiquitin
  • Adenosine Triphosphate
  • Proteasome Endopeptidase Complex