Treatment for skeletal diseases caused by intracellular protein trafficking defects
AssigneesOklahoma Medical Research Foundation, The Board of Regents of the University of Oklahoma
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.
Claims3
A method of treating a bone disease in a human caused by an intracellular protein trafficking defect comprising:
- identifying a human subject having the bone disease caused by the intracellular protein trafficking defect in a membrane bound transcription factor peptidase, site 1 (MBTPS1) gene comprising elevated levels of blood lysosomal enzymes and skeletal dysplasia;
- and
- providing the human 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 wherein the composition comprises a chemical chaperone selected from the group consisting of phenylbutyrate, glycerol phenyl butyrate, sodium phenyl butyrate, and tauroursodexoycholate (TUDCA).
Dependencies are inferred from the claim text.