Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease

J Mol Biol. 2003 Apr 11;327(5):1093-109. doi: 10.1016/s0022-2836(03)00216-x.

Abstract

In humans, two major beta-hexosaminidase isoenzymes exist: Hex A and Hex B. Hex A is a heterodimer of subunits alpha and beta (60% identity), whereas Hex B is a homodimer of beta-subunits. Interest in human beta-hexosaminidase stems from its association with Tay-Sachs and Sandhoff disease; these are prototypical lysosomal storage disorders resulting from the abnormal accumulation of G(M2)-ganglioside (G(M2)). Hex A degrades G(M2) by removing a terminal N-acetyl-D-galactosamine (beta-GalNAc) residue, and this activity requires the G(M2)-activator, a protein which solubilizes the ganglioside for presentation to Hex A. We present here the crystal structure of human Hex B, alone (2.4A) and in complex with the mechanistic inhibitors GalNAc-isofagomine (2.2A) or NAG-thiazoline (2.5A). From these, and the known X-ray structure of the G(M2)-activator, we have modeled Hex A in complex with the activator and ganglioside. Together, our crystallographic and modeling data demonstrate how alpha and beta-subunits dimerize to form either Hex A or Hex B, how these isoenzymes hydrolyze diverse substrates, and how many documented point mutations cause Sandhoff disease (beta-subunit mutations) and Tay-Sachs disease (alpha-subunit mutations).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Binding Sites
  • Crystallography, X-Ray
  • Dimerization
  • Hexosaminidase A
  • Hexosaminidase B
  • Humans
  • Models, Molecular
  • Molecular Sequence Data
  • Protein Conformation
  • Sandhoff Disease / enzymology*
  • Sequence Homology, Amino Acid
  • Tay-Sachs Disease / enzymology*
  • beta-N-Acetylhexosaminidases / chemistry*

Substances

  • Hexosaminidase A
  • Hexosaminidase B
  • beta-N-Acetylhexosaminidases

Associated data

  • PDB/1NOU
  • PDB/1NOW
  • PDB/1NPO