Pathogenic tau mutations
AssigneesMayo Foundation for Medical Education and Research, Washington University, Erasmus Universiteit Rotterdam, The Victoria University of Manchester
InventorsMichael L. Hutton, Peter Heutink, Alison M. Goate, Stuart M. Brown
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Abstract
Isolated nucleic acid molecules that include a tau gene sequence are described. The tau gene sequences have a mutation linked to a Tau pathology. Transgenic non-human mammals containing a Tau pathology also are also described.
Claims26
An isolated nucleic acid molecule encoding a human Tau polypeptide, said polypeptide having a mutation that is associated with a Tau pathology, wherein said mutation is selected from the group consisting of threonine residue at amino acid 257, a valine residue at amino acid 272, a deletion of amino acid 280, a leucine residue or a serine residue at amino acid 301, an arginine residue at amino acid 389, and a tryptophan residue at amino acid 406.
An isolated nucleic acid molecule comprising a human tau gene sequence, said tau gene sequence having a mutation linked to a Tau pathology, wherein said mutation is in a region 13-16 nucleotides 3' of the exon 10 splicer donor site region of said tau gene sequence.
A method for determining a diagnosis, prognosis or risk of a Tau pathology in a patient, said method comprising detecting a tau gene mutation in genomic DNA of said patient, wherein said mutation is in an exon of said tau gene or in a region 13-16 nucleotides 3' of the exon 10 splice donor site of said tau gene, wherein said mutation in said exon results in a deletion of amino acid 280, a threonine residue at amino acid 257, a valine residue at amino acid 272, a leucine residue or a serine residue at amino acid 301, an arginine residue at amino acid 389, or a tryptophan residue at amino acid 406 of a human Tau polypeptide, and wherein said mutation is associated with said Tau pathology.
Dependencies are inferred from the claim text.