Mutated ACVR1 for diagnosis and treatment of Fibrodyplasia Ossificans Progressiva (FOP)
This invention is directed to mutated Activin A type I receptor proteins (ACVR1) and isolated nucleic acids encoding same. The invention also relates to the use of mutated ACVR1 in the diagnosis and treatment of Fibrodysplasia Ossificans Progressiva (FOP).
1. A molecular beacon nucleic acid comprising a stem and a loop and a detectable label, wherein the loop consists of at least 15 contiguous bases of SEQ ID NO: 34 or of at least 15 contiguous bases of the complement of SEQ ID NO: 34, wherein position 11 of SEQ ID NO: 34 is an A.
2. A method of diagnosing Fibrodysplasia Ossificans Progressiva (FOP) in a human subject, said method comprising:
contacting a biological sample containing ACVR1 nucleic acids from said subject with the molecular beacon of claim 1 ;
detecting the presence of an ACVR1 nucleic acid that encodes histidine at the position corresponding to position 206 of SEQ ID NO: 21; and
correlating the presence of an ACVR1 nucleic acid that encodes histidine at the position corresponding to position 206 of SEQ ID NO: 21 with a diagnosis of FOP in the subject.
3. The method of claim 2 wherein the FOP is inherited FOP.
4. The method of claim 2 wherein the FOP is sporadic FOP.
5. The method of claim 2 , wherein the molecular beacon has a photoluminescent dye at on one of the 5′ or 3′ ends and a quenching agent at the opposite 3′ or 5′ end.
6. The method of claim 2 , further comprising a step wherein ACVR1 nucleic acids from the subject are amplified.
7. A kit for diagnosing FOP in a subject, said kit comprising the molecular beacon of claim 1 .
8. A method of diagnosing Fibrodysplasia Ossificans Progressiva (FOP) in a human subject, said method comprising:
amplifying by PCR ACVR1 nucleic acids in a biological sample from said subject;
contacting the amplified ACVR1 nucleic acids with the molecular beacon of claim 1 ;
detecting the presence of an ACVR1 nucleic acid that encodes histidine at the position corresponding to position 206 of SEQ ID NO: 21; and
correlating the presence of an ACVR1 nucleic acid that encodes histidine at the position corresponding to position 206 of SEQ ID NO: 21 with a diagnosis of FOP in the subject.
9. The method of claim 8 wherein the FOP is inherited FOP.
10. The method of claim 8 wherein the FOP is sporadic FOP.
11. The method of claim 8 , wherein the molecular beacon has a photoluminescent dye at on one of the 5′ or 3′ ends and a quenching agent at the opposite 3′ or 5′ end.