TY - JOUR
T1 - Absence of TREM2 polymorphisms in patients with Alzheimer's disease and Frontotemporal Lobar Degeneration
AU - Fenoglio, Chiara
AU - Galimberti, Daniela
AU - Piccio, Laura
AU - Scalabrini, Diego
AU - Panina, Paola
AU - Buonsanti, Cecilia
AU - Venturelli, Eliana
AU - Lovati, Carlo
AU - Forloni, Gianluigi
AU - Mariani, Claudio
AU - Bresolin, Nereo
AU - Scarpini, Elio
N1 - Funding Information:
This work was supported by grants from Associazione “Amici del Centro Dino Ferrari”, Monzino Foundation, IRCCS Ospedale Maggiore Milano, Centre of Excellence for Neurodegenerative Diseases of the University of Milan, “Associazione per la Ricerca sulle Demenze (ARD)”, and Ing. Cesare Cusan.
PY - 2007/1/10
Y1 - 2007/1/10
N2 - Triggering Receptor Expressed on Myeloid cells (TREM)2 deficiency originates a genetic syndrome characterized by bone cysts and presenile dementia, named Nasu-Hakola disease (NHD). Early onset dementia and marked involvement of frontal regions are features characterizing both NHD and other kinds of neurodegenerative disorders, such as Frontotemporal Lobar Degeneration (FTLD), and, in some cases, Alzheimer's disease (AD). Three Single Nucleotide Polymorphisms (SNPs) in TREM2 coding region were screened by allelic discrimination in a population of probable AD patients as well as FTLD patients as compared with age-matched controls. In addition, mutation scanning of the coding region of TREM2 gene was carried out in 7 patients with early onset AD (EOAD), 16 FTLD, and 20 controls. None of the SNPs analyzed was present, either in patients or controls. Moreover, mutation scanning of the five exons of TREM2 failed to detect the presence of novel polymorphisms. These data demonstrate that TREM2 coding region is highly conserved, implying a crucial role of this receptor. Further studies, including a functional analysis, are certainly required to clarify the role of TREM2 in neurodegenerative processes.
AB - Triggering Receptor Expressed on Myeloid cells (TREM)2 deficiency originates a genetic syndrome characterized by bone cysts and presenile dementia, named Nasu-Hakola disease (NHD). Early onset dementia and marked involvement of frontal regions are features characterizing both NHD and other kinds of neurodegenerative disorders, such as Frontotemporal Lobar Degeneration (FTLD), and, in some cases, Alzheimer's disease (AD). Three Single Nucleotide Polymorphisms (SNPs) in TREM2 coding region were screened by allelic discrimination in a population of probable AD patients as well as FTLD patients as compared with age-matched controls. In addition, mutation scanning of the coding region of TREM2 gene was carried out in 7 patients with early onset AD (EOAD), 16 FTLD, and 20 controls. None of the SNPs analyzed was present, either in patients or controls. Moreover, mutation scanning of the five exons of TREM2 failed to detect the presence of novel polymorphisms. These data demonstrate that TREM2 coding region is highly conserved, implying a crucial role of this receptor. Further studies, including a functional analysis, are certainly required to clarify the role of TREM2 in neurodegenerative processes.
KW - Alzheimer's disease (AD)
KW - Early onset dementia
KW - Frontotemporal Lobar Degeneration (FTLD)
KW - Polymorphisms
KW - Triggering Receptor Expressed on Myeloid cells (TREM)2
UR - http://www.scopus.com/inward/record.url?scp=33751409163&partnerID=8YFLogxK
U2 - 10.1016/j.neulet.2006.10.029
DO - 10.1016/j.neulet.2006.10.029
M3 - Article
C2 - 17088018
AN - SCOPUS:33751409163
SN - 0304-3940
VL - 411
SP - 133
EP - 137
JO - Neuroscience Letters
JF - Neuroscience Letters
IS - 2
ER -