Neurotransmitter disorders (Homo sapiens)

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2, 42222221, 322222222 CytosolDopamine-serotonin vesicular transport defectMonoamine oxidase A deficiencyAromatic L-amino acid decarboxylase deficiencySeveral steps involvedDopamine transporter deficiencyTyrosine hydroxylase deficiencyVanillactic acid3-MethoxytyramineMAOADihydroxyphenylacetic acidDBHSLC18A2Epinephrine5-HIALDopamineSerotoninL-DopaSLC6A3MetanephrinePNMTVanillylmandelic acidL-Tryptophan3-methoxy-4-hydroxyphenylglycolBiosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanineAldehyde dehydrogenase5-Hydroxytryptophan5-Hydroxyindoleacetic acidNormetanephrineTH3-O-methyldopaL-TyrosineHomovanillic acidmelatoninNorepinephrineAADCMAOAMAOADopamine beta- hydroxylase deficiencySeveral steps involvedDopamineSerotonin CytosolSLC18A2Dopamine-serotonin vesicular transport defect CytosolNorepinephrineSLC18A2TPHTPH1TPH2PLPBH4qBH21, 3BH4qBH2BH41, 32COMT22COMTBiosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanineDiseaseCatalysisPathwayStimulationProteinMetaboliteConversionConnection to diseaseLegendBiomarkerProtein1cofactorComplex


Description

Neurotransmitters are chemical messengers which mediate, amplify, or modulate synaptic transmissions between neurons, meaning that many are involved in primary brain functions such as movement, pain threshold, memory, and so on. The are various disorders associated with neurotransmitter dysfunction, which may also be caused by defects in the neurotransmitter transporters. This pathway describes various defects including deficiencies of tyrosine hydrolyse (TH), aromatic l-amino acid decarboxylase (AADC), dopamine Beta-Hydroxylase (DBH), monoamine oxidase A, as well as the heredity dopamine transporter syndrome and the brain dopamine-serotonin vesicular transporter (VMAT2) disease. This pathway was inspired by Edition 5, Chapter 19 of the book of Blau (ISBN 9783030677268) (Ed.4 Chapter 31).

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Ontology Terms

 

Bibliography

  1. Mark J Crabtree, Keith M Channon; ''Synthesis and recycling of tetrahydrobiopterin in endothelial function and vascular disease''; Nitric Oxide, 2011 PubMed Europe PMC Scholia
  2. Heiko Brennenstuhl, Sabine Jung-Klawitter, Birgit Assmann, Thomas Opladen; ''Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment''; Neuropediatrics ., 2019 PubMed Europe PMC Scholia
  3. C A Nichol, C L Lee, M P Edelstein, J Y Chao, D S Duch; ''Biosynthesis of tetrahydrobiopterin by de novo and salvage pathways in adrenal medulla extracts, mammalian cell cultures, and rat brain in vivo''; Proc Natl Acad Sci U S A ., 1983 PubMed Europe PMC Scholia
  4. Nenad Blau, Marinus Duran, K Michael Gibson, Carlo Dionisi-Vici; ''Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases''; Springer-Verlag Berlin Heidelberg, 2014

History

View all...
CompareRevisionActionTimeUserComment
128514view00:56, 11 February 2024EweitzSoften disease color
128299view04:24, 30 January 2024EweitzUse standard shape for pathway nodes
127617view20:11, 8 November 2023LarsgwFix reference bp:DB
126301view12:36, 20 April 2023DeSlConverted another MAOA from Metabolite to Protein type
126300view12:35, 20 April 2023DeSlConverted MAOA from Metabolite to Protein type
124951view08:05, 7 January 2023EgonwUpgraded http->httpS in OMIM links
123757view12:29, 12 August 2022DeSlAdded legend
123756view12:27, 12 August 2022DeSlAdded alias for disorder
123755view12:25, 12 August 2022DeSlOntology Term : 'Parkinsonism' added !
123754view12:25, 12 August 2022DeSlOntology Term : 'dystonia' added !
123753view12:24, 12 August 2022DeSlOntology Term : 'Brunner Syndrome' added !
123752view12:23, 12 August 2022DeSlOntology Term : 'Segawa syndrome pathway' added !
123751view12:22, 12 August 2022DeSlOntology Term : 'tryptophan metabolic pathway' added !
123750view12:22, 12 August 2022DeSlOntology Term : 'tryptophan degradation pathway' added !
123749view12:22, 12 August 2022DeSlOntology Term : 'tyrosine degradation pathway' added !
123748view12:22, 12 August 2022DeSlOntology Term : 'tyrosine metabolic pathway' added !
123747view12:21, 12 August 2022DeSlOntology Term : 'epinephrine degradation pathway' added !
123746view12:21, 12 August 2022DeSlOntology Term : 'epinephrine metabolic pathway' added !
123745view12:21, 12 August 2022DeSlOntology Term : 'epinephrine biosynthetic pathway' added !
123744view12:21, 12 August 2022DeSlOntology Term : 'serotonin metabolic pathway' added !
123743view12:20, 12 August 2022DeSlOntology Term : 'serotonin biosynthetic pathway' added !
123742view12:20, 12 August 2022DeSlOntology Term : 'dopamine biosynthetic pathway' added !
123741view12:20, 12 August 2022DeSlOntology Term : 'dopamine metabolic pathway' added !
123740view12:20, 12 August 2022DeSlOntology Term : 'dopamine degradation pathway' added !
123739view12:19, 12 August 2022DeSlAnnotated missing metabolite 5-HIAL
123738view12:17, 12 August 2022DeSlAdding additional details from norephinephrine to VMA and MOPG conversions
123737view09:19, 12 August 2022DeSlAdded some more details on reactions, including lit. ref.
123736view09:11, 12 August 2022DeSlAdded protein complexes + cofactors to reactions starting from Tyr and Try, including lit. refs.
123735view08:52, 12 August 2022DeSlChecked full PW for Ed. 5, updated links to disorders, added transporter enzymes, added ref for full PW
120526view02:00, 11 December 2021EweitzFix case
119285view10:50, 23 June 2021FinterlyAdded ISBN for book citation
117163view09:48, 18 May 2021EweitzModified title
106196view12:09, 16 August 2019MaintBotHMDB identifier normalization
104416view06:26, 24 May 2019MaintBotRemoved the RHEA: prefix from the identifier.
104392view13:56, 23 May 2019Mkutmonfixed reference
104391view13:52, 23 May 2019Mkutmonadd Rhea identifiers
104029view17:42, 25 April 2019IreneHemelModified description
98921view05:17, 16 October 2018EgonwModified description
98251view09:36, 15 August 2018DeSlFixed layout
98250view09:34, 15 August 2018DeSlChanged layout of disease nodes
97385view03:58, 14 May 2018Khanspersdecreased board height
97384view03:57, 14 May 2018Khanspersdecreased board height
97366view10:07, 11 May 2018DeSlChanged layout, connected 5HTP as side metabolite (like chapter indicates), changed disease nodes to labels (with links).
96271view15:59, 3 March 2018EgonwFixed a datanode misclassification
96217view08:57, 1 March 2018DeSlModified description
96207view09:15, 28 February 2018AnneFriesacherModified description
96188view15:37, 23 February 2018AnneFriesacherAdded comments on diseases, added literature reference
96187view15:23, 23 February 2018AnneFriesacherEdited IDs
96186view15:05, 23 February 2018AnneFriesacher
96185view13:46, 23 February 2018DeSlAdded OMIM IDs for disease

External references

DataNodes

View all...
NameTypeDatabase referenceComment
3-MethoxytyramineMetaboliteCHEBI:1582 (ChEBI) AKA 3MT
3-O-methyldopaMetaboliteCHEBI:82913 (ChEBI) AKA 3OMD
3-methoxy- 4-hydroxyphenylglycolMetaboliteQ223097 (Wikidata) AKA MHPG, MOPG
5-HIALMetabolite74688 (PubChem-compound) AKA 5-hydroxyindoleacetaldehyde
5-Hydroxyindoleacetic acidMetaboliteCHEBI:27823 (ChEBI) AKA 5-HIAA
5-HydroxytryptophanMetaboliteCHEBI:17780 (ChEBI) AKA 5-HTP
AADCProteinP20711 (Uniprot-TrEMBL) AKA Aromatic L-amino acid decarboxylase, DCC
Aldehyde dehydrogenaseProtein1.2.1.3 (Enzyme Nomenclature)
BH4MetaboliteCHEBI:30436 (ChEBI) AKA tetrahydropterin, cofactor
Biosynthesis and regeneration

of tetrahydrobiopterin and

catabolism of phenylalanine		PathwayWP4156 (WikiPathways)
COMTProteinP21964 (Uniprot-TrEMBL) AKA Catechol-O- metyltransferase
DBHProteinP09172 (Uniprot-TrEMBL)
  • AKA Dopamine beta-hydrocylase
  • Located membrane-bound and intra-vesicular [PMID: 30372766]
Dihydroxyphenylacetic acidMetaboliteCHEBI:41941 (ChEBI) AKA DOPAC
DopamineMetaboliteCHEBI:59905 (ChEBI)
EpinephrineMetaboliteQ132621 (Wikidata)
Homovanillic acidMetaboliteCHEBI:545959 (ChEBI) AKA HVA
L-DopaMetaboliteCHEBI:57504 (ChEBI) AKA levodopa
L-TryptophanMetaboliteCHEBI:16828 (ChEBI)
L-TyrosineMetaboliteCHEBI:58315 (ChEBI)
MAOAProtein4128 (Entrez Gene) AKA Monoamine oxidase A
MetanephrineMetaboliteHMDB0004063 (HMDB) AKA MET
NorepinephrineMetaboliteCHEBI:72587 (ChEBI)
NormetanephrineMetaboliteQ517109 (Wikidata)
PLPMetaboliteCHEBI:18405 (ChEBI) AKA Pyridoxal phosphate, cofactor
PNMTProteinP11086 (Uniprot-TrEMBL) AKA Phenylethanolamine N-methyltransferase
SLC18A2GeneProduct6571 (Entrez Gene) AKA VMAT2
SLC6A3ProteinQ01959 (Uniprot-TrEMBL)
SerotoninMetaboliteCHEBI:28790 (ChEBI)
THProteinP07101 (Uniprot-TrEMBL) AKA Tyrosine 3-mono oxygenase, TYH
TPHProtein1.14.16.4 (Enzyme Nomenclature) AKA Tryptophan hydroxylase
TPH1ProteinP17752 (Uniprot-TrEMBL)
  • AKA Tryptophan hydroxylase
  • Expressed in skin, gut and pineal gland (tissues where serotonint is expressed), and also in the CNS.
TPH2ProteinQ8IWU9 (Uniprot-TrEMBL)
  • AKA Tryptophan hydroxylase
  • Expressed in neuronal cells, and the predominant isoform of the Central Nervous System (CNS).
Vanillactic acidMetaboliteHMDB0000913 (HMDB) AKA VLA
Vanillylmandelic acidMetaboliteCHEBI:27622 (ChEBI)
melatoninMetaboliteCHEBI:16796 (ChEBI)
qBH2MetaboliteCHEBI:43120 (ChEBI) AKA tetrahydropterin, cofactor

Annotated Interactions

SourceTargetTypeDatabase referenceComment
5-HydroxytryptophanSerotoninmim-conversion18534 (Rhea) not found in Rhea
DopamineNorepinephrinemim-conversion19118 (Rhea)
L-DopaDopaminemim-conversion12273 (Rhea)
L-TyrosineL-Dopamim-conversion18202 (Rhea)
Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP4220"
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