Brain tau expression and correlation with the H1/H1 tau genotype in frontotemporal lobar degeneration patients.
Alterations in tau mRNA splicing and association with H1/H1 tau genotype have been described in some sporadic tauopathies. We evaluated the 4R/3R tau mRNA ratio in 18 patients with frontotemporal lobar degeneration (FTLD), and the effect of the H1/H1 genotype on this ratio. The 4R/3R mRNA ratio in frontal cortex was similar in FTLD patients and controls. The H1/H1 genotype carriers showed a significant increase in 4R/3R mRNA ratio, suggesting that this genotype could modulate the tau mRNA splicing.
Alzheimer's Disease and Other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic and Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
A
A
Lladó
M
M
Ezquerra
C
C
Gaig
R
R
Sánchez-Valle
E
E
Tolosa
J L
JL
Molinuevo
D000368:Aged; D000369:Aged, 80 and over; D017398:Alternative Splicing; D001921:Brain / Q000473:pathology*; D003704:Dementia / Q000235:genetics* / Q000473:pathology*; D005260:Female; D015870:Gene Expression; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020033:Protein Isoforms / Q000096:biosynthesis; D012333:RNA, Messenger / Q000032:analysis; D020133:Reverse Transcriptase Polymerase Chain Reaction; D016875:tau Proteins / Q000096:biosynthesis / Q000235:genetics*
D020033:Protein Isoforms; D012333:RNA, Messenger; D016875:tau Proteins