[Genetic tau-variants in patients with frontotemporal dementia].
OBJECTIVE
[corrected] To evaluate tau-associated genetic polymorphisms in patients with sporadic frontotemporal dementia (FTD) and healthy control subjects.


METHODS
Tau-gene sequence of 30 patients with FTD and 30 healthy controls was analysed by polymerase-chain-reaction (PCR). Subsequent sequencing was performed to identify exonic and intronic differences between both groups.


RESULTS
The following polypmorphisms, which are localized closely to each exon-intron-border, have been identified: In 37 % (n = 11) of the control subjects three different intronic polymorphisms occur simultaneously (Intron 2, 263, C --> Y; Intron 3, 590, A --> R; Intron 11, 150, G --> A). In the FTD group, this coexistance has been observed only in 17 % (n = 5).


CONCLUSIONS
In how far there exists a significant correlation between the newly identified triple polymorphism in the Tau gene and an alternated risk for FTD must be evaluated in a lager population. The proximity of these polymorphisms to the exon-intron border would facilitate functional influences on gene expression patterns. These preliminary results described, above potentially point to further pathogenetic factors in the genesis of FTD.
Ibach
Bernd
B
Klinik und Poliklinik für Psychiatrie und Psychotherapie der Universität Regensburg am Bezirksklinikum. bernd.ibach@medbo.de
Wittmann
Markus
M
Pfannenschmid
Frank
F
Poljansky
Stefan
S
Haen
Ekkehard
E
Hajak
Göran
G
D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D003704:Dementia / Q000175:diagnosis / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D007438:Introns / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D017422:Sequence Analysis, DNA; D024801:Tauopathies / Q000175:diagnosis / Q000235:genetics*; D016875:tau Proteins
C054369:MAPT protein, human; D009419:Nerve Tissue Proteins; D016875:tau Proteins