MTHFR deficiency (Homo sapiens)

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863411131247Influx of calciumProtein homocysteinylationOligodendrocyteMitochrondrial dysfunctionAuto-oxidationSAM is decreased in MTHFR deficiencySAM is decreased in MTHFR deficiencyCytochrome C releaseMyelin components79[Myelin basic protein]-arginineDAGCholine kinase alpha5,10-Methylene-THFCholinephosphatidylethanolaminebetainePEMTsphingomyelinCASP3Ca2+SAMMetRSCytochrome C[Myelin basic protein]-N-methylarginineCHDHPhosphocholineApoptosisNMDA 2DNMDA 1CASP9MethioninePRMTHomocysteine thiolactonereactive oxygen speciesMTHFR deficiencyDimethylglycineCDP-cholineNMDA 2AHomocysteineBetaine aldehydeBHMTphosphatidylcholine5-Methyl-THFSGMS 1BADHCeramideOxidative DamageMTHFRSAHbetaineCholineCHPT-1CCT-alphaSAMSAMSAMMBP methylation is decreased in MTHFR deficiencyMBP is a component of myelin sheat. Methylation is needed for structure stability.Homocystein levels areelevated in MTHFR deficiency.HomocysteineExcitotoxicity5, 6HomocysteineInhibitor of methyltransferases.Lipid & Protein oxidationCa2+HomocysteineCytochrome C


Description

In Prasad et al.(2011) three hypothesis of demyelination in CNS of MTHFR deficient patients were given. These three possible mechanisms were: inadequate methionine synthesis, a deficiency of S-adenosylmethionine or accumulation of toxic intermediates from the elevated levels of homocysteine. This pathway includes all three of these possible mechanisms.

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Quality Tags

Ontology Terms

 

Bibliography

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  1. Petras M, Tatarkova Z, Kovalska M, Mokra D, Dobrota D, Lehotsky J, Drgova A; ''Hyperhomocysteinemia as a risk factor for the neuronal system disorders.''; J Physiol Pharmacol, 2014 PubMed Europe PMC Scholia
  2. Pajares MA, Perez-Sala D; ''Betaine homocysteine S-methyltransferase: just a regulator of homocysteine metabolism?''; Cell Mol Life Sci, 2006 PubMed Europe PMC Scholia
  3. Poddar R, Paul S; ''Novel crosstalk between ERK MAPK and p38 MAPK leads to homocysteine-NMDA receptor-mediated neuronal cell death.''; J Neurochem, 2013 PubMed Europe PMC Scholia
  4. Prasad AN, Rupar CA, Prasad C; ''Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy.''; Brain Dev, 2011 PubMed Europe PMC Scholia
  5. Sharma GS, Singh LR; ''Conformational status of cytochrome c upon N-homocysteinylation: Implications to cytochrome c release.''; Arch Biochem Biophys, 2017 PubMed Europe PMC Scholia
  6. James SJ, Melnyk S, Pogribna M, Pogribny IP, Caudill MA; ''Elevation in S-adenosylhomocysteine and DNA hypomethylation: potential epigenetic mechanism for homocysteine-related pathology.''; J Nutr, 2002 PubMed Europe PMC Scholia
  7. Li Z, Vance DE; ''Phosphatidylcholine and choline homeostasis.''; J Lipid Res, 2008 PubMed Europe PMC Scholia
  8. Ueland PM; ''Choline and betaine in health and disease.''; J Inherit Metab Dis, 2011 PubMed Europe PMC Scholia
  9. Gault CR, Obeid LM, Hannun YA; ''An overview of sphingolipid metabolism: from synthesis to breakdown.''; Adv Exp Med Biol, 2010 PubMed Europe PMC Scholia
  10. Fan X, Jin WY, Wang YT; ''The NMDA receptor complex: a multifunctional machine at the glutamatergic synapse.''; Front Cell Neurosci, 2014 PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
128288view01:59, 30 January 2024EweitzFix typo, standardize case
128287view01:57, 30 January 2024EweitzRefine colors, tailor node dimensions
128286view01:53, 30 January 2024EweitzFix typos, otherwise copyedit, standardize case
128285view01:51, 30 January 2024EweitzImprove color contrast, for readability
124269view12:34, 6 October 2022DeSlUpdated sphingomyelin ID to more general one
124268view12:24, 6 October 2022DeSlUpdated interactions to textLabels to graphical Lines
124267view12:21, 6 October 2022DeSlAdded tranlocations iso arrows
120407view09:21, 30 November 2021Fehrhartboxed pathway nodes
108079view11:48, 28 November 2019FehrhartOntology Term : 'disease pathway' added !
106792view13:27, 17 September 2019MaintBotHMDB identifier normalization
104404view14:54, 23 May 2019JosienlandmanAdded Rhea identifier and modified ChEBI
104402view14:48, 23 May 2019JosienlandmanAdded Rhea identifier for betaine aldehyde -> betaine
104399view14:28, 23 May 2019JosienlandmanAdded Rhea identifiers and modified ChEBIs
104052view20:02, 28 April 2019EgonwAdded some redundant/empty Biopax content.
104022view17:37, 25 April 2019IreneHemelModified description
102720view14:02, 21 January 2019DeSlModified description
98310view11:48, 20 August 2018DeSlModified description
98306view11:37, 20 August 2018DeSlChanged layout of disease, added linkout to related PW.
97981view20:31, 28 June 2018KhanspersModified description
97945view09:03, 26 June 2018Jessev1993lay out changes
97944view09:00, 26 June 2018Jessev1993changed layout
97890view13:41, 19 June 2018DeSlChanged wrong characters in lit ref.
97889view13:38, 19 June 2018DeSlAdded competitive inhibitor info.
97888view11:36, 19 June 2018Jessev1993added enzymes inhibited by SAH
97877view08:27, 13 June 2018Jessev1993changed pathway link myelin components
97864view09:17, 12 June 2018Jessev1993added annotation for MetRS
97863view08:53, 12 June 2018Jessev1993Changed cytochrome c from metabolite to protein
97850view09:35, 11 June 2018DeSlRemoved Ec + space for linkout.
97729view11:35, 7 June 2018Jessev1993Added enzymes inhibited by SAH
97592view08:40, 28 May 2018DeSlOntology Term : 'S-adenosylmethionine homeostasis pathway' added !
97591view08:40, 28 May 2018DeSlChanged lit. ref with weird symbols.
97590view08:35, 28 May 2018DeSlAdded comments for each node related to its hypothesis.
97584view06:22, 27 May 2018EgonwReplaced secondary ChEBI identifiers with primary identifiers.
97573view12:09, 25 May 2018Jessev1993
97572view12:05, 25 May 2018Jessev1993Checked lines, changed when needed. Put text label also in commment
97569view11:18, 25 May 2018DeSlCleaned up layout for better readability
97568view10:58, 25 May 2018DeSlOntology Term : 'methylenetetrahydrofolate reductase deficiency pathway' added !
97567view10:56, 25 May 2018DeSlModified description
97440view13:40, 17 May 2018Jessev1993added text labels
97420view07:03, 16 May 2018Jessev1993Ontology Term : 'oligodendrocyte' added !
97419view07:01, 16 May 2018Jessev1993Ontology Term : 'inherited metabolic disorder' added !
97418view06:59, 16 May 2018Jessev1993Ontology Term : 'folate metabolic pathway' added !
97417view06:58, 16 May 2018Jessev1993Ontology Term : 'hyperhomocysteinemia disease pathway' added !
97402view12:51, 15 May 2018Jessev1993New pathway

External references

DataNodes

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NameTypeDatabase referenceComment
5,10-Methylene-THFMetaboliteCHEBI:1989 (ChEBI)
5-Methyl-THFMetaboliteCHEBI:15641 (ChEBI)
ApoptosisPathwayWP254 (WikiPathways)
BADHProteinP49419 (Uniprot-TrEMBL)
BHMTProteinQ93088 (Uniprot-TrEMBL)
Betaine aldehydeMetaboliteCHEBI:3074 (ChEBI)
CASP3GeneProductENSG00000164305 (Ensembl)
CASP9GeneProductENSG00000132906 (Ensembl)
CCT-alphaProteinP49585 (Uniprot-TrEMBL)
CDP-cholineMetaboliteCHEBI:58779 (ChEBI)
CHDHProteinQ8NE62 (Uniprot-TrEMBL)
CHPT-1ProteinQ8WUD6 (Uniprot-TrEMBL)
Ca2+MetaboliteCHEBI:3308 (ChEBI)
CeramideMetaboliteCHEBI:17761 (ChEBI)
Choline kinase alphaProteinP35790 (Uniprot-TrEMBL)
CholineMetaboliteCHEBI:3665 (ChEBI)
Cytochrome CMetaboliteCHEBI:4062 (ChEBI)
DAGMetaboliteCHEBI:18035 (ChEBI)
DimethylglycineMetaboliteCHEBI:17724 (ChEBI)
Homocysteine thiolactoneMetaboliteHMDB02287 (HMDB)
HomocysteineMetaboliteCHEBI:17230 (ChEBI)
MTHFR deficiency
MTHFRGeneProductENSG00000177000 (Ensembl)
MetRSProtein
  • Needs annotation
  • Type your comment here
MethionineMetaboliteCHEBI:16643 (ChEBI)
NMDA 1ProteinQ05586 (Uniprot-TrEMBL)
NMDA 2AProteinF5GZ52 (Uniprot-TrEMBL)
NMDA 2DProteinO15399 (Uniprot-TrEMBL)
Oxidative DamagePathwayWP3941 (WikiPathways)
PEMTProteinQ9UBM1 (Uniprot-TrEMBL)
PRMTProteinB4E0W7 (Uniprot-TrEMBL)
PhosphocholineMetaboliteCHEBI:3667 (ChEBI)
SAHMetaboliteCHEBI:16680 (ChEBI)
SAMMetaboliteCHEBI:67040 (ChEBI)
SGMS 1ProteinD3DWC4 (Uniprot-TrEMBL)
[Myelin basic protein]-N-methylarginineMetaboliteCHEBI:10167 (ChEBI)
[Myelin basic protein]-arginineMetaboliteCHEBI:10166 (ChEBI)
betaineMetaboliteCHEBI:13895 (ChEBI)
phosphatidylcholineMetaboliteCHEBI:49183 (ChEBI)
phosphatidylethanolamineMetaboliteCHEBI:16038 (ChEBI)
reactive oxygen speciesMetaboliteQ424361 (Wikidata)
sphingomyelinMetaboliteCHEBI:62490 (ChEBI)

Annotated Interactions

No annotated interactions

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