Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Monoaminoxidase B

Das MAOB-Gen kodiert ein mitochondriales Flavin-Enzym, welches für die oxydative Deaminierung von Aminen verantwortlich ist. Ein Zusammenhang mit der Histaminintoleranz wird auch diskutiert.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Histamin-Intoleranz
AOC1
HNMT
MAOA
MAOB

Referenzen:

1.

Chen ZY et. al. (1992) Organization of the human monoamine oxidase genes and long-range physical mapping around them.

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2.

Chen K et. al. (2004) A spontaneous point mutation produces monoamine oxidase A/B knock-out mice with greatly elevated monoamines and anxiety-like behavior.

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3.

Grimsby J et. al. (1991) Human monoamine oxidase A and B genes exhibit identical exon-intron organization.

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4.

Whibley A et. al. (2010) Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements.

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5.

Levy ER et. al. (1989) Localization of human monoamine oxidase-A gene to Xp11.23-11.4 by in situ hybridization: implications for Norrie disease.

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6.

Kochersperger LM et. al. (1986) Assignment of genes for human monoamine oxidases A and B to the X chromosome.

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7.

Denney RM et. al. (1982) Human liver MAO-A and MAO-B separated by immunoaffinity chromatography with MAO-B-specific monoclonal antibody.

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8.

Brunner HG et al. (1993) X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism.

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9.

Lenders JW et. al. (1996) Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes.

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10.

Kurth JH et. al. (1993) Association of a monoamine oxidase B allele with Parkinson's disease.

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11.

Costa-Mallen P et. al. () Characterization of the in vitro transcriptional activity of polymorphic alleles of the human monoamine oxidase-B gene.

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12.

Gassó P et. al. (2008) Association of A/G polymorphism in intron 13 of the monoamine oxidase B gene with schizophrenia in a Spanish population.

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13.

Mellick GD et. al. (1999) Variations in the monoamine oxidase B (MAOB) gene are associated with Parkinson's disease.

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14.

Bach AW et. al. (1988) cDNA cloning of human liver monoamine oxidase A and B: molecular basis of differences in enzymatic properties.

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15.

Wyatt RJ et. al. (1973) Reduced monoamine oxidase activity in platelets: a possible genetic marker for vulnerability to schizophrenia.

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16.

Rice J et. al. (1984) Platelet monoamine oxidase (MAO) activity: evidence for a single major locus.

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17.

None (1983) Biochemical genetics of catecholamines in humans.

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18.

Goldin LR et. al. (1982) Segregation and linkage studies of plasma dopamine-beta-hydroxylase (DBH), erythrocyte catechol-O-methyltransferase (COMT), and platelet monoamine oxidase (MAO): possible linkage between the ABO locus and a gene controlling DBH activity.

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19.

Chen K et. al. (1993) The deduced amino acid sequences of human platelet and frontal cortex monoamine oxidase B are identical.

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20.

Fowler JS et. al. (1996) Inhibition of monoamine oxidase B in the brains of smokers.

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21.

Grimsby J et. al. (1997) Increased stress response and beta-phenylethylamine in MAOB-deficient mice.

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22.

Checkoway H et. al. (1998) A genetic polymorphism of MAO-B modifies the association of cigarette smoking and Parkinson's disease.

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23.

Wu RM et. al. (2001) The COMT L allele modifies the association between MAOB polymorphism and PD in Taiwanese.

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24.

Binda C et. al. (2002) Structure of human monoamine oxidase B, a drug target for the treatment of neurological disorders.

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