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BDNF gene
Pathology:
- common point mutation, methionine for valine, is present in ~30% of humans.
- BDNF Val66Met mutation associated with
- lower scores on tests of episodic memory, but not other cognitive tests [1]
- slower movement of BDNF towards synapse & inadequate secretion
- faster cognitive decline in Alzheimer's disease [2]
- lower BDNF production
- decreased hippocampal volume
- amyloid may exacerbate [2]
Related
brain-derived neurotrophic factor; BDNF; abrineurin (BDNF)
General
unclassified gene
Properties
TEMPLATE-FOR: messenger RNA
TEMPLATE-FOR: brain-derived neurotrophic factor
LOCUS: human chromosome-11 P15-14
MOTIF: transcription factor binding site
transcriptional start site
exon
intron
transcriptional termination site
Database Correlations
OMIM 113505
MORBIDMAP 113505
References
- Journal Watch 23(6):48, 2003
- Egan MF, Kojima M, Callicott JH et al
The BDNF val66met polymorphism affects activity-dependent
secretion of BDNF and human memory and hippocampal function.
Cell. 2003 Jan 24;112(2):257-69.
PMID: 12553913 Free Article
- Kneisel K
Gene Linked to Steeper Cognitive Declines in AD -
Decline exacerbated by greater b-amyloid burden.
MedPage Today. May 4, 2017
https://www.medpagetoday.com/Neurology/AlzheimersDisease/65016
- Boots EA, Schultz SA, Clark LR et al
BDNF Val66Met predicts cognitive decline in the Wisconsin
Registry for Alzheimer's Prevention.
Neurology 2017;88:1-9
PMID: 28468845