Claims
- 1. A method of determining whether dysferlin is expressed in a mammal, the method comprising
(a) providing a blood sample from the mammal, and (b) assaying the blood sample for the presence of dysferlin expression.
- 2. The method of claim 1, wherein step (b) comprises detecting dysferlin nucleic acid expression.
- 3. The method of claim 1, wherein step (b) comprises detecting dysferlin protein expression.
- 4. The method of claim 3, wherein step (b) comprises an immunologic assay.
- 5. The method of claim 1, wherein the mammal is suspected of having a dysferlinopathy.
- 6. The method of claim 5, wherein the dysferlinopathy is limb girdle muscular dystrophy 2B (LGMD) or Miyoshi myopathy (MM).
- 7. The method of claim 1, further comprising the step of determining the level of dysferlin protein or dysferlin mRNA in the blood sample.
- 8. The method of claim 1, further comprising the step of comparing the level of dysferlin protein or dysferlin mRNA in the blood sample to a reference.
- 9. The method of claim 6, wherein a lower level of dysferlin expression in the blood sample compared to the reference indicates the presence of a dysferlinopathy in the mammal.
- 10. The method of any of claims 1-9, wherein the mammal is a human.
- 11. A method of determining whether a mammal has a dysferlinopathy, is predisposed to having a dysferlinopathy, or is a genetic carrier for a dysferlinopathy, the method comprising
(a) providing a blood sample from the mammal; and (b) determining the level of dysferlin expression in the blood sample, wherein a level lower than a predetermined value is an indication that the mammal is predisposed to having a dysferlinopathy or is a genetic carrier for a dysferlinopathy.
- 12. A method for determining whether a therapy for a dysferlinopathy is effective in a mammal, the method comprising
(a) providing a blood sample from the mammal following treatment with the therapy, and (b) determining the level of dysferlin expression in the blood sample, wherein a level of dysferlin expression that is higher than the level of dysferlin expression in a blood sample obtained from the mammal prior to the initiation of therapy is an indication that the therapy is effective.
- 13. The method of any one of claims 11-12, wherein the step of determining the level of dysferlin expression comprises exposing the blood sample to a nucleic acid molecule that hybridizes to a dysferlin mRNA under stringent conditions.
- 14. The method of any one of claims 11-12, wherein the step of determining the level of dysferlin expression comprises detecting the presence of dysferlin polypeptide.
- 15. The method of claim 14, wherein the step of determining the level of dysferlin expression comprises exposing the blood sample to an antibody that selectively binds to dysferlin.
- 16. The method of any one of claims 11-12, wherein the mammal is a human.
- 17. The method of any one of claims 11-12, wherein the dysferlinopathy is limb girdle muscular dystrophy or Miyoshi myopathy.
Parent Case Info
[0001] The present application claims the benefit of the filing date of U.S.S.N. 60/333,895, which was filed on Nov. 28, 2001. The contents of U.S.S.N. 60/333,895 are hereby incorporated by reference in the present application in their entirety.
Provisional Applications (1)
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Number |
Date |
Country |
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60333895 |
Nov 2001 |
US |