Diagnosis of neurodegenerative disease
OwnerFrederik Willem Van Leeuwen, Johannes Peter Henri Burbach +1inventors
InventorsFrederik Willem Van Leeuwen, Johannes Peter Henri Burbach, Franklin G. Grosveld
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Abstract
The invention encompasses methods and reagents for the diagnosis of a disease caused by or associated with a gene having a somatic mutation giving rise to a frameshift mutation. The methods include the steps of providing a body fluid or tissue sample from a patient; and analyzing the sample for the presence of a gene having a frameshift mutation or a protein encoded thereby, wherein the presence of the mutated gene or encoded protein is indicative of the disease.
Claims12
A method for the diagnosis of a neurodegenerative disease selected from the group consisting of Alzheimer's Disease (AD) and Downs' Syndrome (DS) caused by or associated with a somatic mutation within a GAGAX sequence in a gene wherein X is one of G, A, T or C and encoding a frameshift mutation, said method comprising:
- i. providing a biological sample comprising genomic DNA or protein from a patient suspected of having or developing said neurodegenerative disease;
- and
- ii. detecting in said sample a said somatic mutation in a said gene or a protein encoded thereby,
- wherein detection of said somatic mutation in said gene or said protein encoded thereby is indicative of said neurodegenerative disease.
A method for identifying a neurodegenerative disease caused by or associated with a somatic mutation in a gene encoding a protein selected from the group consisting ofamyloid A4 (APP), Tau, ubiquitin B, ApoE4, MAP2, nerofilament protein low, neurofilament protein medium and neurofilament protein high, wherein said somatic mutation results in a translational frameshift and is within a GAGAX sequence, wherein X is one of G, A, T or C, said method comprising:
- i. providing the sequence of a said gene;
- ii. identifying the sequence of a mutant protein encoded by a gene sequence 3'-terminal to a said somatic mutation;
- iii. preparing a probe to said mutant protein or a fragment thereof;
- and
- iv. probing a biological sample from a patient having a neurodegenerative disease and a biological sample from a patient not having said neurodegenerative disease,
- wherein the presence of said mutant protein in a biological sample from a patient having said neurodegenerative disease and the absence of said mutant protein in a biological sample from a patient not having said neurodegenerative disease indicates that said neurodegenerative disease or susceptibility to said neurodegenerative disease is caused by or associated with said somatic mutation in said gene.
Dependencies are inferred from the claim text.