Brunner syndrome is a rare genetic disorder associated with a mutation in the MAOA gene. It is characterized by lower than average IQ (typically about 85), problematic impulsive behavior (such as pyromania, hypersexuality and violence), sleep disorders and mood swings.[1][2] It was identified in fourteen males from one family in 1993.[1][3] It has since been discovered in additional families.[4]
Brunner syndrome is caused by a monoamine oxidase A (MAOA) deficiency, which leads to an excess of monoamines in the brain, such as serotonin, dopamine, and norepinephrine (noradrenaline). In both mice and humans, a mutation was located on the eighth exon of the MAO-A gene, which created a dysfunctional MAO-A gene.[6][7] The regular function of MAO-A, breaking down monoamines, is disrupted, and monoamines build up within the brain. Mice that lacked a functional MAO-A gene displayed higher levels of aggression, in comparison to mice with a functional MAO-A gene.[7]
Diagnosisedit
Upon suspicion of Brunner syndrome and after having eliminated other potential suspects via means of differential diagnosis, Brunner syndrome is diagnosed by genetic testing for specific mutations of the MAOA gene. Since the syndrome is so rare, it is usually only suspected and tested for if there are other diagnosed instances of the syndrome in one's direct family.[citation needed]
Treatmentedit
Progesterone & Rauwolfia serpentina (containing Reserpine) are a possible treatment as they both increase MAO-A activity.[citation needed]
Historyedit
Brunner Syndrome was described in 1993 by H.G. Brunner and his colleagues upon the discovery of a particular genetic defect in male members of a large Dutch family.[6] Brunner found that all of the male family members with this defect reacted aggressively when angry, fearful, or frustrated. The defect discovered was later found to be a mutation in the gene that codes for monoamine oxidase A (MAOA gene).[6] Brunner said that an "MAO-A deficiency is associated with a recognizable behavioural phenotype that included disturbed regulation of impulsive aggression".[6]
A letter published by Hebebrand and Klug (1995)[8] criticized Brunner's findings for not using strict DSM criteria.
Society and cultureedit
Brunner's findings have been used to argue that genetics, rather than decision-making processes, can cause criminal activity.[9] Evidence supporting the genetic defense stems from both Brunner's findings and a series of studies on mice.[10] To prove the correlation between MAO-A deficiency and aggression in courts, it is often contended that individuals cannot be held accountable for their genes, and as a result, should not be held responsible for their dispositions and resulting actions.[9][10]
Referencesedit
^ abHunter P (September 2010). "The psycho gene". EMBO Rep. 11 (9): 667–9. doi:10.1038/embor.2010.122. PMC2933872. PMID 20805840.
^Brunner HG; Nelen MR; van Zandvoort P; Abeling NGGM; van Gennip AH; Wolters EC; Kuiper MA; Ropers HH; van Oost BA (June 1993). "X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism". Am. J. Hum. Genet. 52 (6): 1032–9. PMC1682278. PMID 8503438.
^Piton A, Redin C, Mandel JL (August 2013). "XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing". Am. J. Hum. Genet. 93 (2): 368–83. doi:10.1016/j.ajhg.2013.06.013. PMC3738825. PMID 23871722.
^"Monoamine oxidase A deficiency". MedlinePlus. Retrieved 23 February 2023.
^ abcdBrunner HG, Nelen M, Breakefield XO, Ropers HH, van Oost BA (October 1993). "Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A". Science. 262 (5133): 578–80. Bibcode:1993Sci...262..578B. doi:10.1126/science.8211186. PMID 8211186.
^ abScott, AL; Bortolato, M; Chen, K; Shih, JC (2008-05-07). "Novel monoamine oxidase A knock out mice with human-like spontaneous mutation". NeuroReport. 19 (7): 739–43. doi:10.1097/WNR.0b013e3282fd6e88. PMC3435113. PMID 18418249.
^Hebebrand J, Klug B (September 1995). "Specification of the phenotype required for men with monoamine oxidase type A deficiency". Hum. Genet. 96 (3): 372–6. doi:10.1007/BF00210430. PMID 7649563. S2CID 33294633.
^ abHalwani S, Krupp DB (2004). "The genetic defence: the impact of genetics on the concept of criminal responsibility". Health Law J. 12: 35–70. PMID 16539076.
^ abBaker LA, Bezdjian S, Raine A (2006). "Behavioral genetics: the science of antisocial behavior". Law Contemp Probl. 69 (1–2): 7–46. PMC2174903. PMID 18176636.
External linksedit
January 01, 1970
brunner, syndrome, rare, genetic, disorder, associated, with, mutation, maoa, gene, characterized, lower, than, average, typically, about, problematic, impulsive, behavior, such, pyromania, hypersexuality, violence, sleep, disorders, mood, swings, identified, . Brunner syndrome is a rare genetic disorder associated with a mutation in the MAOA gene It is characterized by lower than average IQ typically about 85 problematic impulsive behavior such as pyromania hypersexuality and violence sleep disorders and mood swings 1 2 It was identified in fourteen males from one family in 1993 1 3 It has since been discovered in additional families 4 Brunner syndromeOther namesMonoamine oxidase A deficiencyThis condition is inherited in an X linked recessive manner Contents 1 Signs and symptoms 2 Causes 3 Diagnosis 4 Treatment 5 History 6 Society and culture 7 References 8 External linksSigns and symptoms editThe following signs and symptoms occur in people with monoamine oxidase A deficiency which causes Brunner syndrome 5 lack of impulse control aggressive or violent outbursts ASD or ADHD like behavioral features obsessive behaviors difficulties forming friendships problems focusing attention sleep problems trouble falling asleep night terrors skin flushing sweating headaches diarrheaCauses editBrunner syndrome is caused by a monoamine oxidase A MAOA deficiency which leads to an excess of monoamines in the brain such as serotonin dopamine and norepinephrine noradrenaline In both mice and humans a mutation was located on the eighth exon of the MAO A gene which created a dysfunctional MAO A gene 6 7 The regular function of MAO A breaking down monoamines is disrupted and monoamines build up within the brain Mice that lacked a functional MAO A gene displayed higher levels of aggression in comparison to mice with a functional MAO A gene 7 Diagnosis editUpon suspicion of Brunner syndrome and after having eliminated other potential suspects via means of differential diagnosis Brunner syndrome is diagnosed by genetic testing for specific mutations of the MAOA gene Since the syndrome is so rare it is usually only suspected and tested for if there are other diagnosed instances of the syndrome in one s direct family citation needed Treatment editProgesterone amp Rauwolfia serpentina containing Reserpine are a possible treatment as they both increase MAO A activity citation needed History editBrunner Syndrome was described in 1993 by H G Brunner and his colleagues upon the discovery of a particular genetic defect in male members of a large Dutch family 6 Brunner found that all of the male family members with this defect reacted aggressively when angry fearful or frustrated The defect discovered was later found to be a mutation in the gene that codes for monoamine oxidase A MAOA gene 6 Brunner said that an MAO A deficiency is associated with a recognizable behavioural phenotype that included disturbed regulation of impulsive aggression 6 A letter published by Hebebrand and Klug 1995 8 criticized Brunner s findings for not using strict DSM criteria Society and culture editBrunner s findings have been used to argue that genetics rather than decision making processes can cause criminal activity 9 Evidence supporting the genetic defense stems from both Brunner s findings and a series of studies on mice 10 To prove the correlation between MAO A deficiency and aggression in courts it is often contended that individuals cannot be held accountable for their genes and as a result should not be held responsible for their dispositions and resulting actions 9 10 References edit a b Hunter P September 2010 The psycho gene EMBO Rep 11 9 667 9 doi 10 1038 embor 2010 122 PMC 2933872 PMID 20805840 Online Mendelian Inheritance in Man OMIM 300615 Brunner HG Nelen MR van Zandvoort P Abeling NGGM van Gennip AH Wolters EC Kuiper MA Ropers HH van Oost BA June 1993 X linked borderline mental retardation with prominent behavioral disturbance phenotype genetic localization and evidence for disturbed monoamine metabolism Am J Hum Genet 52 6 1032 9 PMC 1682278 PMID 8503438 Piton A Redin C Mandel JL August 2013 XLID causing mutations and associated genes challenged in light of data from large scale human exome sequencing Am J Hum Genet 93 2 368 83 doi 10 1016 j ajhg 2013 06 013 PMC 3738825 PMID 23871722 Monoamine oxidase A deficiency MedlinePlus Retrieved 23 February 2023 a b c d Brunner HG Nelen M Breakefield XO Ropers HH van Oost BA October 1993 Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A Science 262 5133 578 80 Bibcode 1993Sci 262 578B doi 10 1126 science 8211186 PMID 8211186 a b Scott AL Bortolato M Chen K Shih JC 2008 05 07 Novel monoamine oxidase A knock out mice with human like spontaneous mutation NeuroReport 19 7 739 43 doi 10 1097 WNR 0b013e3282fd6e88 PMC 3435113 PMID 18418249 Hebebrand J Klug B September 1995 Specification of the phenotype required for men with monoamine oxidase type A deficiency Hum Genet 96 3 372 6 doi 10 1007 BF00210430 PMID 7649563 S2CID 33294633 a b Halwani S Krupp DB 2004 The genetic defence the impact of genetics on the concept of criminal responsibility Health Law J 12 35 70 PMID 16539076 a b Baker LA Bezdjian S Raine A 2006 Behavioral genetics the science of antisocial behavior Law Contemp Probl 69 1 2 7 46 PMC 2174903 PMID 18176636 External links edit Retrieved from https en wikipedia org w index php title Brunner syndrome amp oldid 1182158734, wikipedia, wiki, book, books, library,
