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Gene Review

MAFD1  -  major affective disorder 1

Homo sapiens

Synonyms: BPAD, MD1
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Disease relevance of MAFD1


Psychiatry related information on MAFD1

  • A susceptibility gene on chromosome 18 and a parent-of-origin effect have been suggested for bipolar affective disorder (BPAD) [6].
  • Suicidal behavior is thought to result from an interaction of genetic, neurobiological, and psychosocial factors and tends to cluster in families, suggesting specific familial factors distinct from those that underlie BPAD itself [7].
  • BACKGROUND: The Child Behavior Checklist (CBCL) has been used to provide a quantitative description of childhood bipolar disorder (BPAD) [8].
  • Major affective disorder clinically similar to the disorder found in conditions other than Huntington's Disease (HD) was found in 41% of patients with HD in a consecutive case series ascertained through multiple sources in a defined geographical area [9].
  • Available data on gamma amino butyric acid (GABA) support the hypothesis that a dysfunction in the brain GABAergic system activity contributes to vulnerability to affective disorders (AD), including bipolar disorder (BPAD) and unipolar disorder (UPAD) [10].

High impact information on MAFD1

  • BACKGROUND: An analysis of the relationship between clinical features and allele sharing could clarify the issue of genetic linkage between bipolar affective disorder (BPAD) and chromosome 18q, contributing to the definition of genetically valid clinical subtypes [11].
  • These findings, limited by the small number of BPII-BPII sibling pairs, strengthen the evidence of genetic linkage between BPAD and chromosome 18q, and provide preliminary support for BPII as a genetically valid subtype of BPAD [11].
  • Larger CAG/CTG trinucleotide-repeat tracts in individuals affected with schizophrenia (SCZ) and bipolar affective disorder (BPAD) in comparison with control individuals have previously been reported, implying a possible etiological role for trinucleotide repeats in these diseases [12].
  • Our results provide further support for linkage of BPAD to chromosome 18 and the first molecular evidence for a parent-of-origin effect operating in this disorder [6].
  • We examined the frequency and risk of affective disorder among relatives in a sample of 31 families ascertained through treated probands with BPAD and selected for the presence of affected phenotypes in only one parental lineage [13].

Chemical compound and disease context of MAFD1


Biological context of MAFD1

  • Two non-Mendelian phenomena, genomic imprinting and mitochondrial inheritance, may contribute to the complex inheritance pattern seen in BPAD [13].
  • We conclude that genetic anticipation occurs in this sample of unilineal BPAD families [18].
  • In order to identify chromosomal regions containing genes that play a role in determining susceptibility to this psychiatric condition, we have conducted a complete genome screen with 382 markers (average marker spacing of 9.3 cM) in a sample of 75 BPAD families which were recruited through an explicit ascertainment scheme [19].
  • The second best finding was seen on 10q25-q26 (D10S217; LOD score = 2.86) and has been reported in independent studies of BPAD [19].
  • After correcting for multiple testing, two haplotypes remained significant in both the female BPAD individuals (P=0.038 and 0.032) and in the full sample of affected female individuals (P=0.044 and 0.033) [20].

Anatomical context of MAFD1


Associations of MAFD1 with chemical compounds

  • A poorer response (a 71% decrease; a reduction from 1.39 episodes per year off lithium to 0.65 on lithium) was found in familial patients with a first-degree relative of BPAD [14].
  • Serotonin signaling has long been implicated in both BPAD and suicide, and the gene encoding the brain-expressed isoform of tryptophan hydroxlyase (TPH2) has been described [7].
  • Functional analyses indicate that the G72 gene product plays a role in the activation of N-methyl-D-aspartate receptors, a molecular pathway implicated in both schizophrenia and BPAD, making it the most plausible candidate gene at this locus [23].
  • The expression pattern of G-olf alpha in the brain, its coupling to dopamine receptors, and the effects of lithium salts on G-proteins all support G-olf alpha as a candidate gene for BPAD [24].
  • Plasma arginase activities and Mn were found to be significantly lower and total nitrite level higher in patients with BPAD compared with controls [16].

Other interactions of MAFD1


Analytical, diagnostic and therapeutic context of MAFD1

  • Further analyses by our group of RED (CTG)10 ligation products amongst an extended sample of patients and comparison with controls matched for age, sex and ethnicity show no significant differences in distribution (P= 0.23, n=95; P=0.93, n=91, for SCZ and BPAD respectively) [26].
  • Association was observed for rs2235349 and rs2076137 with SCZ and ss16339163 with BPAD in case-control study [27].
  • In this study two crossreactive monoclonal antibodies, one specific for human IFN-gamma (MD1), the other specific for human TNF-alpha (61E71), were tested for immunosuppressive potencies in a skin transplantation study in the rhesus monkey [28].
  • In this cross-sectional study, we examined the association between functional polymorphisms in the angiotensin converting enzyme (ACE) and angiotensinogen (AGT) genes in 115 bipolar affective disorder (BPAD) patients and 323healthy control subjects [29].
  • RCAD when compared with non-rapid cycling bipolar affective disorder (BPAD) revealed a significantly longer mean duration of illness, greater number of total episodes, greater number of hospitalizations and stronger family loading of bipolar affective disorder [30].


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  10. Lack of association between GABRA3 and unipolar affective disorder: a multicentre study. Massat, I., Souery, D., Del-Favero, J., Oruc, L., Jakovljevic, M., Folnegovic, V., Adolfsson, R., Kaneva, R., Papadimitriou, G., Dikeos, D., Jazin, E., Milanova, V., Van Broeckhoven, C., Mendlewicz, J. Int. J. Neuropsychopharmacol. (2001) [Pubmed]
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  12. An unstable trinucleotide-repeat region on chromosome 13 implicated in spinocerebellar ataxia: a common expansion locus. Vincent, J.B., Neves-Pereira, M.L., Paterson, A.D., Yamamoto, E., Parikh, S.V., Macciardi, F., Gurling, H.M., Potkin, S.G., Pato, C.N., Macedo, A., Kovacs, M., Davies, M., Lieberman, J.A., Meltzer, H.Y., Petronis, A., Kennedy, J.L. Am. J. Hum. Genet. (2000) [Pubmed]
  13. Patterns of maternal transmission in bipolar affective disorder. McMahon, F.J., Stine, O.C., Meyers, D.A., Simpson, S.G., DePaulo, J.R. Am. J. Hum. Genet. (1995) [Pubmed]
  14. Relationship between prophylactic effect of lithium therapy and family history of affective disorders. Engström, C., Aström, M., Nordqvist-Karlsson, B., Adolfsson, R., Nylander, P.O. Biol. Psychiatry (1997) [Pubmed]
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  16. The role of the arginine-nitric oxide pathway in the pathogenesis of bipolar affective disorder. Yanik, M., Vural, H., Tutkun, H., Zoroğlu, S.S., Savaş, H.A., Herken, H., Koçyiğit, A., Keleş, H., Akyol, O. European archives of psychiatry and clinical neuroscience. (2004) [Pubmed]
  17. Mutational screening and association study of glutamate decarboxylase 1 as a candidate susceptibility gene for bipolar affective disorder and schizophrenia. Lundorf, M.D., Buttenschøn, H.N., Foldager, L., Blackwood, D.H., Muir, W.J., Murray, V., Pelosi, A.J., Kruse, T.A., Ewald, H., Mors, O. Am. J. Med. Genet. B Neuropsychiatr. Genet. (2005) [Pubmed]
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  20. Association analysis of the chromosome 4p-located G protein-coupled receptor 78 (GPR78) gene in bipolar affective disorder and schizophrenia. Underwood, S.L., Christoforou, A., Thomson, P.A., Wray, N.R., Tenesa, A., Whittaker, J., Adams, R.A., Le Hellard, S., Morris, S.W., Blackwood, D.H., Muir, W.J., Porteous, D.J., Evans, K.L. Mol. Psychiatry (2006) [Pubmed]
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