No evidence of PGRN or MAPT gene dosage alterations in a collection of patients with frontotemporal lobar degeneration.
OBJECTIVE
Alterations in gene dosage have recently been associated with neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease, and deletions of the progranulin (PGRN) locus were recently described in patients with frontotemporal lobar degeneration (FTLD). FTLD is a genetically complex neurodegenerative disorder with mutations in the PGRN and the microtubule-associated protein tau (MAPT) genes being the most common known causes of familial FTLD. In this study, we investigated 39 patients with FTLD, previously found negative for mutations in PGRN and MAPT, for copy number alterations of these 2 genes.


METHODS
Gene dosage analysis of PGRN and MAPT was performed using multiplex ligation-dependent probe amplification.


RESULTS
We did not identify any PGRN or MAPT gene dosage variations in the 39 FTLD patients investigated.


CONCLUSIONS
We therefore conclude that alterations in gene copy number of PGRN and MAPT are not a cause of disease in this collection of FTLD patients.
Skoglund
Lena
L
Molecular Geriatrics, Department of Public Health and Caring Sciences, Uppsala University, SE-751 85 Uppsala, Sweden. Lena.Skoglund@pubcare.uu.se
Ingvast
Sofie
S
Matsui
Toshifumi
T
Freeman
Stefanie H
SH
Frosch
Matthew P
MP
Brundin
Rosemarie
R
Giedraitis
Vilmantas
V
Growdon
John H
JH
Hyman
Bradley T
BT
Lannfelt
Lars
L
Ingelsson
Martin
M
Glaser
Anna
A
D057174:Frontotemporal Lobar Degeneration / Q000235:genetics*; D017353:Gene Deletion; D018628:Gene Dosage; D020440:Gene Duplication; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D021141:Nucleic Acid Amplification Techniques; D000077153:Progranulins; D016875:tau Proteins / Q000235:genetics*
C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; C054369:MAPT protein, human; D000077153:Progranulins; D016875:tau Proteins