Journal
NEUROBIOLOGY OF AGING
Volume 59, Issue -, Pages -Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2017.06.026
Keywords
Autosomal dominantly inherited; frontotemporal dementia; FTD-3; CHMP2B; TMEM106B; SNP rs3173615; ApoE
Categories
Funding
- Aase Crones Estate
- Jascha Foundation
- Desiree and Niels Ydes Foundation
- P.A. Messerschmidts and Wife's Foundation
- Director Jacob Madsen and Wife Olga Madsens Foundation
- Novo Nordisk Foundation
- Innovation Fund Denmark (Brainstem) [4108-00008B]
- Alzheimers Research UK [ARUK-PPG2014B-5] Funding Source: researchfish
- Medical Research Council [UKDRI-1006, MC_U123192748, MC_UU_00024/7, MR/J004022/1] Funding Source: researchfish
- Novo Nordisk Fonden [NNF11OC1014514] Funding Source: researchfish
- MRC [MC_U123192748, UKDRI-1006, MC_UU_00024/7, MR/J004022/1] Funding Source: UKRI
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Single-nucleotide polymorphisms in the TMEM106B gene have been identified as a risk factor in frontotemporal dementia (FTD). The major allele of SNP rs3173615 is a risk factor in sporadic FTD, whereas the minor allele seems protective in GRN- and C9orf72-mediated FTD. The role of apolipoprotein E (ApoE) in FTD is uncertain, though an established risk factor in Alzheimer's disease. In a unique Danish family, inherited FTD is caused by a mutation in the CHMP2B gene located on chromosome 3 (FTD-3). In this family, both risk factors TMEM106B and ApoE were analyzed and correlated to age at onset (AAO) and progression in terms of age at institutionalization (AAI) and age at death (AAD). Although TMEM106B and CHMP2B share cellular function in that both localize to endolysosomes, TMEM106B genotypes appeared to have no influence on the clinical disease course. ApoE epsilon 4 was found to be a protective factor with later AAO and AAI, whereas epsilon 2 seemed to aggravate the disease with earlier AAO and AAD. These results indicate ApoE epsilon 2 as a risk factor in FTD-3 and suggest a protective role of epsilon 4. (C) 2017 Elsevier Inc. All rights reserved.
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