Treatment for Skeletal Diseases Caused by Intracellular Protein Trafficking Defects
OwnerYuji Kondo, Jianxin Fu +4inventors
InventorsYuji Kondo, Jianxin Fu, Hua Wang, Klaas Wierenga, Patrick M. Gaffney, Lijun Xia
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Abstract
The present invention includes a method of treating a bone disease caused by a intracellular protein trafficking defect comprising: identifying a subject having the bone disease caused by the intracellular protein trafficking defect in a membrane bound transcription factor peptidase, site 1 (MBTPS1) gene; and providing the subject with an effective amount of a composition that bypasses or corrects a defect in MBTPS1 gene expression, gene splicing, or corrects protein trafficking defects in the endoplasmic reticulum and to the lysosome.
Claims28
A method of treating a bone disease caused by an intracellular protein trafficking defect comprising:
- identifying a subject having the bone disease caused by the intracellular protein trafficking defect in a membrane bound transcription factor peptidase, site 1 (MBTPS1) gene;
- and
- providing the subject with an effective amount of a composition that bypasses or corrects a defect in MBTPS1 gene expression, gene splicing, or corrects lysosomal protein trafficking.
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A method of detecting and treating a subject with a bone disease comprising:
- obtaining a biological sample from the subject;
- detecting if the subject has elevated levels of blood lysosomal enzymes;
- and
- treating the subject with an effective amount of a composition that bypasses or corrects a defect in an MBTPS1 gene expression, gene splicing, or prevents secretion of lysosomal enzymes.
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A composition for the treatment of a bone disease comprising:
- a recombinant vector that comprises a promoter that drives the expression of a membrane bound transcription factor peptidase, site 1 (MBTPS1) gene, or a composition that bypasses or corrects a defect in MBTPS1 gene expression, gene splicing, or corrects lysosomal protein trafficking, in an amount sufficient to correct the bone disease.
Dependencies are inferred from the claim text.