RGD Reference Report - The brain-derived neurotrophic factor Val66Met polymorphism is associated with reduced hippocampus perfusion in frontotemporal lobar degeneration. - Rat Genome Database

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The brain-derived neurotrophic factor Val66Met polymorphism is associated with reduced hippocampus perfusion in frontotemporal lobar degeneration.

Authors: Borroni, B  Bianchi, M  Premi, E  Alberici, A  Archetti, S  Paghera, B  Cerini, C  Papetti, A  Padovani, A 
Citation: Borroni B, etal., J Alzheimers Dis. 2012;31(2):243-51. doi: 10.3233/JAD-2012-120226.
RGD ID: 10059351
Pubmed: PMID:22596272   (View Abstract at PubMed)
DOI: DOI:10.3233/JAD-2012-120226   (Journal Full-text)

Brain-derived neurotrophic factor (BDNF) promotes several functions in neurons and modulates neurotransmissions, especially in hippocampal regions. Frontotemporal lobar degeneration (FTLD) has a strong genetic background, but genetic risk factors associated with sporadic disease are unknown. Hippocampal involvement is frequently observed in FTLD. The aims of this study were: i) to evaluate if BDNF genetic variations are associated with an increased risk of developing FTLD; and ii) to assess the neuroimaging profiles associated with BDNF polymorphisms. Ninety-one FTLD patients who underwent SPECT imaging and blood sampling entered the study, and clinical, cognitive, and behavioral examinations were performed. A larger group of FTLD patients (n = 194) and controls (n = 396; 162 healthy subjects and 234 Alzheimer's disease (AD) patients) underwent genetic analyses, considering BDNF polymorphisms (Val66Met, rs2049045 C/G, G11757C). A significant different distribution of G11757C genotype in FTLD (GG 53.1%, GC 42.8%, CC 4.1%) compared to controls (G/G 55.6%, G/C 34.6%, C/C 9.8%, p = 0.020) was found. No other significant differences in genotype and allele distributions were detected. The effect of BDNF polymorphisms on brain perfusion was analyzed. BDNF Val66Met A* carriers (A/A or G/A) showed a significant greater hypoperfusion parahippocampal regions as compared to G/G carriers (p < 0.005). No effect of G11757C polymorphism on brain perfusion was found. rs2049045 C/G was not considered as in linkage disequilibrium with Val66Met polymorphism. BDNF Val66Met polymorphism may play a role as a modulator of the FTLD expression and may drive a selective damage in specific brain region affected by the disease.




  
Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
BDNFHumanFrontotemporal Lobar Degeneration no_associationIAGP DNA:SNP: :rs2049045 (human)RGD 
BDNFHumanFrontotemporal Lobar Degeneration  IAGP DNA:polymorphisms: :196G>A (p.V66M), 11757G>C (human)RGD 
BdnfRatFrontotemporal Lobar Degeneration no_associationISOBDNF (Homo sapiens)DNA:SNP: :rs2049045 (human)RGD 
BdnfRatFrontotemporal Lobar Degeneration  ISOBDNF (Homo sapiens)DNA:polymorphisms: :196G>A (p.V66M), 11757G>C (human)RGD 
BdnfMouseFrontotemporal Lobar Degeneration no_associationISOBDNF (Homo sapiens)DNA:SNP: :rs2049045 (human)RGD 
BdnfMouseFrontotemporal Lobar Degeneration  ISOBDNF (Homo sapiens)DNA:polymorphisms: :196G>A (p.V66M), 11757G>C (human)RGD 


Genes (Rattus norvegicus)
Bdnf  (brain-derived neurotrophic factor)

Genes (Mus musculus)
Bdnf  (brain derived neurotrophic factor)

Genes (Homo sapiens)
BDNF  (brain derived neurotrophic factor)