MAPT mutations and haplotype in frontotemporal lobar degeneration
Author Information
Author(s): Kaivorinne Anna-Lotta, Krüger Johanna, Kuivaniemi Katja, Tuominen Hannu, Moilanen Virpi, Majamaa Kari, Remes Anne M
Primary Institution: Department of Neurology, University of Oulu, Oulu, Finland
Hypothesis
The study aimed to investigate MAPT mutations and haplotype frequencies in patients with frontotemporal lobar degeneration in Northern Finland.
Conclusion
Pathogenic MAPT mutations are rare in Northern Finland, but the MAPT H2 allele may be associated with increased risks of frontotemporal lobar degeneration and early onset Alzheimer's disease.
Supporting Evidence
- No pathogenic mutations were found in the MAPT gene among the patients.
- The H2 allele frequency was significantly higher in FTLD patients compared to healthy controls.
- A positive family history was present in 27% of the FTLD patients.
Takeaway
The study looked at a group of people with a brain disease and found that a specific gene variant might make them more likely to have this disease, even though harmful mutations in that gene are rare.
Methodology
The researchers sequenced specific exons of the MAPT gene in 59 patients with frontotemporal lobar degeneration and analyzed haplotypes in these patients, along with patients with early onset Alzheimer's disease and healthy controls.
Limitations
The study was limited to a specific population in Northern Finland, which may not represent other populations.
Participant Demographics
The study included 59 patients with frontotemporal lobar degeneration, with a mean age at onset of 58.5 years, and 49% were men.
Statistical Information
P-Value
0.028
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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