TY - JOUR
T1 - A unique common ancestor introduced P301L mutation in MAPT gene in frontotemporal dementia patients from Barcelona (Baix Llobregat, Spain)
AU - Palencia-Madrid, Leire
AU - Sánchez-Valle, Raquel
AU - Fernández de Retana, Ierai
AU - Borrego, Sergi
AU - Grau-Rivera, Oriol
AU - Reñé, Ramón
AU - Hernández, Isabel
AU - Almenar, Consuelo
AU - Rossi, Giacomina
AU - Caroppo, Paola
AU - Redaelli, Veronica
AU - Le Ber, Isabelle
AU - Camuzat, Agnès
AU - Brice, Alexis
AU - Antonell, Anna
AU - Balasa, Mircea
AU - Gelpi, Ellen
AU - Lladó, Albert
AU - de Pancorbo, Marian M.
PY - 2019/12
Y1 - 2019/12
N2 - The County of Baix Llobregat (Barcelona, Catalonia, Spain) presents a high prevalence of familial frontotemporal dementia (FTD) in the presence of P301L mutation in the MAPT gene. To evaluate a possible unique founder effect of P301L, and its age, the analysis of 20 single-nucleotide polymorphisms covering 50 kb and 12 single-nucleotide polymorphisms located along 30 Mb around the mutation was performed by developing 2 multiplex single-base extension reactions. In addition, families with affected and healthy individuals from France and Italy were analyzed. The FTD-affected individuals from Barcelona carried the same 50-kb haplotype linked to P301L mutation, suggesting a unique common ancestor, as opposed to French patients. Italian patients are also probably descendants of a unique ancestor, which would be different from that of Barcelona. Diversity of 30-Mb haplotypes found in Barcelona and the inference of the mutation age in these populations, among other reasons, suggest that prevalence of FTD linked to P301L MAPT mutation is the result of a locally originated mutation.
AB - The County of Baix Llobregat (Barcelona, Catalonia, Spain) presents a high prevalence of familial frontotemporal dementia (FTD) in the presence of P301L mutation in the MAPT gene. To evaluate a possible unique founder effect of P301L, and its age, the analysis of 20 single-nucleotide polymorphisms covering 50 kb and 12 single-nucleotide polymorphisms located along 30 Mb around the mutation was performed by developing 2 multiplex single-base extension reactions. In addition, families with affected and healthy individuals from France and Italy were analyzed. The FTD-affected individuals from Barcelona carried the same 50-kb haplotype linked to P301L mutation, suggesting a unique common ancestor, as opposed to French patients. Italian patients are also probably descendants of a unique ancestor, which would be different from that of Barcelona. Diversity of 30-Mb haplotypes found in Barcelona and the inference of the mutation age in these populations, among other reasons, suggest that prevalence of FTD linked to P301L MAPT mutation is the result of a locally originated mutation.
KW - Common ancestor
KW - Founder effect
KW - Frontotemporal dementia FTD
KW - MAPT
KW - Mutational event
KW - rs63751273
UR - http://www.scopus.com/inward/record.url?scp=85072202696&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85072202696&partnerID=8YFLogxK
U2 - 10.1016/j.neurobiolaging.2019.08.015
DO - 10.1016/j.neurobiolaging.2019.08.015
M3 - Article
C2 - 31537395
AN - SCOPUS:85072202696
VL - 84
SP - 236.e9-236.e15
JO - Neurobiology of Aging
JF - Neurobiology of Aging
SN - 0197-4580
ER -