BETA-HEXOSAMINIDASE PROTEIN VARIANTS AND ASSOCIATED METHODS FOR TREATING GM2 GANGLIOSDOSES

摘要

Embodiments herein include variants of β-hexosaminidase that are useful for hydrolyzing GM2 ganglioside, polynucleotides encoding the same, and related methods. In various embodiments, a variant β-hexosaminidase subunit is included wherein the variant β-hexosaminidase subunit forms a homodimer under physiological conditions and wherein the variant β-hexosaminidase subunit associates with GM2 activator protein to hydrolyze GM2 ganglioside. In some embodiments, an isolated or recombinant polynucleotide encoding such a variant β-hexosaminidase subunit is included. In some embodiments, a method of treating a subject exhibiting an abnormal cellular accumulation of GM2 ganglioside is included wherein the method includes administering a composition including a protein variant of β-hexosaminidase or a polynucleotide encoding the same. Other embodiments are included herein.