Genetic association has been found between the CD38 gene and ASD in a high-functioning U.S. AGRE cohort as well as a smaller Japanese cohort (Munesue et al., 2010). In addition, a significant reduction in CD38 expression was seen in ASD subjects compared to their "unaffected" parents, and genetic association was found with several CD38 haplotypes and ASD in an Israeli population cohort (Lerer et al., 2010).
Molecular Function
CD38 is a novel multifunctional ectoenzyme widely expressed in cells and tissues especially in leukocytes. CD38 also functions in cell adhesion, signal transduction and calcium signaling. CD38 synthesizes cyclic ADP-ribose, a second messenger for glucose-induced insulin secretion. CD38 also has cADPr hydrolase activity and moonlights as a receptor in cells of the immune system.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Two genetic variants of CD38 in subjects with autism spectrum disorder and controls.
Cd38 has a key role in neuropeptide release, thereby critically regulating maternal and social behaviours, and may be an element in neurodevelopmental disorders.
References
Type
Title
Author, Year
Primary
CD38 is critical for social behaviour by regulating oxytocin secretion.
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Targeted deletion of exon 1 of CD38 gene via homologous recominbation.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not Specified
Genetic Background: C57BI/6J X DBA
ES Cell Line: TT2
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Targeted deletion of exons 2 and 3 of the Cd38 gene.
Allele Type: Knockout
Strain of Origin: Genetic Background: C57BI/6
ES Cell Line: Not specified
Mutant ES Cell Line: Not specified
Model Source: Lund and Randall Laboratory, University of Alabama, USA
Description: Abnormally increased number of dense, core vesicles occupying both axon swellings and endings
Exp Paradigm: Electron microscopic analysis of neurohypophysis
Description: Decreased social memory demonstrated by sustained high levels of investigation of same female and new female
Exp Paradigm: Social memory test in tripartite chamber
Description: Increased social interest demonstrated by sustained high levels of investigation at each encounter with same female
Exp Paradigm: Male mice: social interest test with sustained presentation of female mice
Description: Abnormal pup retrieval demonstrated by long time to being retreival and dropping of pups during retrieval
Exp Paradigm: Female mice: dam and pup separation test for maternal behavior
Description: Adult male mutants show increase in the basal levels of serotonin compared with controls. adult and juvenile female mutants show modest increase in serotonin compared with controls.
Exp Paradigm: Prefrontal cortex
Description: Mutants show increase in e/i ratio compared with controls with a shift of total conductance toward increased excitaion and decreased inhibition.
Exp Paradigm: Stable somatic voltage-clamp recordings of l5pyns sub-threshold postsynaptic responses evoked by layer 2-3 electrical stimulation at various holding potentials were obtained from the pfc.
Description: Mutants show increase in e/i ratio compared with controls with a shift of total conductance toward increased excitaion and decreased inhibition.
Exp Paradigm: Stable somatic voltage-clamp recordings of l5pyns sub-threshold postsynaptic responses evoked by layer 2-3 electrical stimulation at various holding potentials were obtained from the pfc.
Description: Mutants show increased potentiation of excitation compared with controls. mutants show no change in the potentiation of inhibition compared with controls.
Exp Paradigm: A high frequency stimulation protocol was applied to layer 2-3 of the pfc to induce ltp of both excitatory and inhibitory conductances in l5pyns.
Description: Fewer adult and juvenile male mutants emit usv calls in the presence of another age, sex and weight matched mouse in a novel environment compared with controls.
Exp Paradigm: NA
Description: Adult male mutants show increase in the duration of freezing in response to autitory tone without footshock and foot shock during the acquisition phases of the cued and contextual fear conditioning tests respectively, compared with controls.
Exp Paradigm: NA
Description: Adult male mutants show no change in the duration or number of contacts with an unfamiliar mouse over a novel object compared with controls.
Exp Paradigm: NA
Description: Adult male mutants show increase in the levels of the serotonin metabolite 5-hiaa and dopamine metabolites dopac and hva compared with controls. adult and juvenile female mutants show modest increase in serotonin metabolites compared with controls.
Exp Paradigm: Prefrontal cortex
