Sequences associated with TDP-43 proteinopathies and methods of using the same
The present invention provides nucleic acids and peptides, and methods of using the nucleic acids and peptides to identify subjects at risk for a TDP-43 proteinopathy. The invention also provides for an army comprising the nucleic acids and peptides of the invention.
1. A method for detecting a mutation in a TDP-43 gene from a human subject, comprising
(i) obtaining a sample comprising a TDP-43 gene from the human subject; and
(ii) sequencing the TDP-43 gene; and
(iii) detecting an adenine at a position corresponding to position 1077 of SEQ ID NO:1.
2. A method for identifying a human subject at risk for a TDP-43 proteinopathy, comprising (i) obtaining a sample comprising a TDP-43 gene from the human subject; (ii) sequencing the TDP-43 gene; (iii) detecting an adenine at a position corresponding to position 1077 of SEQ ID NO:1; and (iv) identifying the subject as having a risk for a TDP-43 proteinopathy when an adenine is detected at position 1077 of SEQ ID NO:1.
3. The method of claim 2 , wherein the subject is also at risk for motor neuron disease (MND) selected from the group consisting of familial MND and amyotrophic lateral sclerosis (ALS).
4. The method of claim 2 , wherein the subject is also at risk for FTLD-U.
5. A method for classifying a human subject with FTLD-U or MND as having a TDP-43 proteinopathy, comprising
(i) obtaining a sample comprising a TDP-43 gene from the human subject;
(ii) sequencing the TDP-43 gene;
(iii) detecting an adenine at a position corresponding to position 1077 of SEQ ID NO:1; and
(iv) identifying the subject as having a TDP-43 proteinopathy when an adenine is detected at a position corresponding to position 1077 of SEQ ID NO:1.
6. The method of claim 5 , wherein the MND is selected from the group consisting of familial MND and ALS.
7. A method for classifying a human subject with familial MND as having a TDP-43 proteinopathy, comprising
(i) obtaining a sample comprising a TDP-43 gene from the human subject;
(ii) sequencing the TDP-43 gene;
(iii) detecting an adenine at a position corresponding to position 1077 of SEQ ID NO:1; and
(iv) identifying the subject as having a TDP-43 proteinopathy when an adenine is detected at a position corresponding to position 1077 of SEQ ID NO:1.