Significant changes in the tau A0 and A3 alleles in progressive supranuclear palsy and improved genotyping by silver detection.
Open Access
- 1 August 1998
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Neurology
- Vol. 55 (8), 1122
- https://doi.org/10.1001/archneur.55.8.1122
Abstract
Background Progressive supranuclear palsy (PSP) is characterized by intraneuronal inclusions of neurofibrillary tangles formed by aggregated tau protein. A significant association between the tau gene A0/A0 genotype and PSP recently has been reported. Objectives To determine if a significant association between the tau gene A0/A0 genotype and PSP could be found in an independent population with a genetic background different from that in which the initial association was reported, and to standardize a nonradioactive method for tau gene genotyping. Setting Hospital and university research laboratories. Subjects and Methods To facilitate genotyping of the tau gene, we standardized the conditions for silver-based detection of the tau gene dinucleotide polymorphism. Thirty patients from Spain clinically diagnosed as having probable PSP were included in the study and compared with different control groups. Results A highly significant overrepresentation of the A0/A0 genotype (P<.001) and a decrease in the frequency of the A0/A3 genotype were found in the Spanish patients with PSP compared with the control group. A method based on silver detection was standardized for the genotyping of the tau gene. Conclusions The detection of a significant association between the tau gene A0/A0 genotype and PSP in 2 independent populations rules out genetic stratification as an explanation for the association and indicates that the presence of the tau A0/A0 genotype is a risk factor for developing PSP independent of genetic background. Alternatively, the results could be interpreted as a protective effect of the A3 allele.Keywords
This publication has 9 references indexed in Scilit:
- Neurodegenerative disorders with extensive tau pathology: A comparative study and reviewAnnals of Neurology, 1996
- Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome)Neurology, 1996
- Normal distribution of apolipoprotein E alleles in progressive supranuclear palsyNeurology, 1996
- Progressive supranuclear palsy: clinical and pathological diagnosisEuropean Journal of Neurology, 1995
- Apolipoprotein E4 allele frequency in Spanish Alzheimer and control casesNeuroscience Letters, 1995
- Progressive supranuclear palsy: neuropathologically based diagnostic clinical criteria.Journal of Neurology, Neurosurgery & Psychiatry, 1995
- Preliminary NINDS neuropathologic criteria for Steele‐Richardson‐Olszewski syndrome (progressive supranuclear palsy)Neurology, 1994
- Fast and sensitive silver staining of DNA in polyacrylamide gelsAnalytical Biochemistry, 1991
- Tau protein and neurodegenerationMolecular Neurobiology, 1990