Mutated arylsulfatase A
AssigneeRheinische Frirdrich-Wilhelms-UniversitäT Bonn
InventorsUlrich Matzner, Volkmar Gieselmann
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Abstract
The present invention pertains to a novel treatment of pathologies caused by an increased synthesis or accumulation of sulfolipids such as sulfatide. The invention provides mutated arylsulfatase A (ARSA or ASA, EC 3.1.6.8) enzymes with increased activity towards sulfatide metabolization. The invention provides nucleic acids encoding the mutant ARSA, the use of the proteins and nucleic acids, as well as pharmaceutical compositions comprising them, in the treatment of lysosomal storage disorders (LSDs) such as metachromatic leukodystrophy (MLD).
Claims20
An isolated nucleic acid comprising a sequence coding for a mutated arylsulfatase A (ARSA) enzyme, wherein the mutated ARSA enzyme comprises an amino acid sequence with at least 80% sequence identity to SEQ ID NO:
- 1, wherein the mutated ARSA enzyme amino acid sequence when aligned to the sequence of SEQ ID NO:
- 1 comprises at least amino acid mutations M202V, T286L and R291N compared to SEQ ID NO:
- 1.
A vector, comprising a nucleic acid, the nucleic acid comprising a sequence coding for a mutated arylsulfatase A (ARSA) enzyme, wherein the mutated ARSA enzyme comprises an amino acid sequence with at least 80% sequence identity to SEQ ID NO:
- 1, wherein the mutated ARSA enzyme amino acid sequence when aligned to the sequence of SEQ ID NO:
- 1 comprises at least amino acid mutations M202V, T286L and R291N compared to SEQ ID NO:
- 1.
A recombinant cell comprising a nucleic acid comprising a sequence coding for a mutated arylsulfatase A (ARSA) enzyme, wherein the mutated ARSA enzyme comprises an amino acid sequence with at least 80% sequence identity to SEQ ID NO:
- 1, wherein the mutated ARSA enzyme amino acid sequence when aligned to the sequence of SEQ ID NO:
- 1 comprises at least amino acid mutations M202V, T286L and R291 N compared to SEQ ID NO:
- 1.
Dependencies are inferred from the claim text.