Compositions and methods for treating disorders associated with abnormal phosphate metabolism
AssigneeTechnion Research & Development Foundation Limited
InventorsEli Sprecher, Reuven Bergman
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Abstract
The present invention uncovers that mutations in GALNT3 gene encoding UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T3) cause familial tumoral calcinosis (FTC). Methods and pharmaceutical compositions useful for treating disorders associated with abnormal phosphate metabolism are provided. Specifically, inducers of GalNAc-T3 can be used to treat hyperphosphatemia related disorders such as FTC, and on the other hand, inhibitors of GalNAc-T3 can be used to treat disorders associated with hypophosphatemia, such as hypophosphatemic rickets.
Claims6
A method of diagnosing familial tumoral calcinosis (FTC) in a human individual, the method comprising identifying in a polynucleotide sequence consisting of SEQ ID NO:29 or 33 of the individual, a C→T transition at position 484 of SEQ ID NO:29 and a G→A transition at position 1524+5 (intron 7 of SEQ ID NO:33) in compound heterozygous form, thereby diagnosing familial tumoral calcinosis in the individual.
A method of identifying a molecular basis of familial tumoral calcinosis (FTC) in a human individual diagnosed with the FTC, the method comprising identifying in a polynucleotide sequence consisting of SEQ ID NO:29 or 33 of the individual at least one nucleic acid substitution selected from the group consisting of a C→T transition at position 484 of SEQ ID NO:29, a G→A transition at position 1524+1 (intron 7 of SEQ ID NO:33) and a G→A transition at position 1524+5 (intron 7 of SEQ ID NO:33), wherein said nucleic acid substitution is present in the individual in a homozygous form or a compound heterozygous form, thereby identifying the molecular basis familial tumoral calcinosis in the individual.
Dependencies are inferred from the claim text.