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Relevance to Autism

BDNF(+/-) mice displayed a global reduction in grooming activity, with fewer bouts and transitions between specific grooming stages, altered grooming syntax, as well as hypolocomotion and increased turning behavior (Kyzar et al., 2012). Abnormal BDNF serum levels in ASD cases have also been reported (Nelson et al., 2001; Miyazaki et al., 2004; Connolly et al., 2006; Hashimoto et al., 2006). Two meta-analyses of BDNF levels in autism found evidence for higher BDNF levels in ASD cases compared with controls (Armeanu et al., 2016; Zheng et al., 2016).

Molecular Function

During development, promotes the survival and differentiation of selected neuronal populations of the peripheral and central nervous systems. Participates in axonal growth, pathfinding and in the modulation of dendritic growth and morphology. Major regulator of synaptic transmission and plasticity at adult synapses in many regions of the CNS.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Alterations in grooming activity and syntax in heterozygous SERT and BDNF knockout mice: the utility of behavior-recognition tools to characterize ...
Negative Association
Elevated Serum Brain-Derived Neurotrophic Factor (BDNF) but not BDNF Gene Val66Met Polymorphism Is Associated with Autism Spectrum Disorders.
ASD
Support
Increased expression of BDNF mRNA in the frontal cortex of autistic patients.
ASD
Support
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguin...
ID
Support
Reduced serum levels of brain-derived neurotrophic factor in adult male patients with autism.
Support
Brain-derived neurotrophic factor and autoantibodies to neural antigens in sera of children with autistic spectrum disorders, Landau-Kleffner syndr...
Support
Serum neurotrophin concentrations in autism and mental retardation: a pilot study.
Highly Cited
Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation.
Recent Recommendation
Abnormalities in the zinc-metalloprotease-BDNF axis may contribute to megalencephaly and cortical hyperconnectivity in young autism spectrum disord...
Recent Recommendation
Peripheral brain-derived neurotrophic factor in autism spectrum disorder: a systematic review and meta-analysis.
Recent Recommendation
Meta-Analysis of BDNF Levels in Autism.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN625R001 
 missense_variant;missense_variant 
 c.[365T>C];[365T>C] 
 p.[Met122Thr];[Met122Thr] 
 Familial 
 Both parents 
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Deletion-Duplication
 5
 
11
Deletion
 1
 
11
Deletion
 3
 
11
Deletion
 1
 
11
Deletion
 1
 
11
Deletion
 1
 
11
Deletion
 2
 
11
Deletion
 1
 
11
Deletion
 1
 
11
Deletion
 1
 
11
Deletion
 1
 
11
Deletion
 1
 
11
Duplication
 1
 

Model Summary

Self grooming behavior is a reliable behavioral biomarker of genetic deficits in BDNF pathways.

References

Type
Title
Author, Year
Primary
Alterations in grooming activity and syntax in heterozygous SERT and BDNF knockout mice: the utility of behavior-recognition tools to characterize ...

M_BDNF_1_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Disruption.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not specified
Genetic Background:
ES Cell Line: Not specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_BDNF_1_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Self grooming: perseveration1
Decreased
Description: Decreased grooming bouts, episodes and total transitions, lower paw licking, body/leg wash, rostral grooming and caudal grooming frequeny
Exp Paradigm: Automated monitoring of animals in home cage
 Observation of repetitive behavior
 5-8 months
Self grooming: perseveration1
Decreased
Description: Decreased grooming indicated by reduced grooming activity, including bouts, episodes, total duration, total transitions, paw licking, rostral grooming, rostral transitions
Exp Paradigm: Manual observations of grooming behavior
 Home cage behavior: self-grooming
 5-8 months
Self grooming: perseveration1
 No Change
 Home cage behavior: self-grooming
 5-8 months
Self grooming: perseveration1
 No Change
 Observation of repetitive behavior
 5-8 months
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Seizure, Sensory, Social behavior


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
Mir30a microRNA 30a 387225 Luciferase reporter assay
Darcq E , et al. 2014
Sox2 SRY-box containing gene 2 20674 P48432 ChIP-Seq; qRT-PCR
Amador-Arjona A , et al. 2015
CADPS2 F1LWT1 IP/WB
Sadakata T , et al. 2004
Cdyl chromodomain protein, Y-like 361237 Q6AYK9 ChIP
Palomer E , et al. 2016
Creb1 cAMP responsive element binding protein 1 81646 P15337 ChIP
Palomer E , et al. 2016
Crebbp CREB binding protein 54244 Q6JHU9 ChIP
Palomer E , et al. 2016
Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit 312299 B5DFE2 ChIP
Palomer E , et al. 2016
Kdm6b lysine demethylase 6B 363630 B2BL36 ChIP
Palomer E , et al. 2016
Map14 mitogen activated protein kinase 14 81649 P70618 ChIP
Palomer E , et al. 2016

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