RGD Reference Report - Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects. - Rat Genome Database

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Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects.

Authors: Blom, HJ  Smulders, Y 
Citation: Blom HJ and Smulders Y, J Inherit Metab Dis. 2011 Feb;34(1):75-81. doi: 10.1007/s10545-010-9177-4. Epub 2010 Sep 4.
RGD ID: 7242426
Pubmed: PMID:20814827   (View Abstract at PubMed)
PMCID: PMC3026708   (View Article at PubMed Central)
DOI: DOI:10.1007/s10545-010-9177-4   (Journal Full-text)

This overview addresses homocysteine and folate metabolism. Its functions and complexity are described, leading to explanations why disturbed homocysteine and folate metabolism is implicated in many different diseases, including congenital birth defects like congenital heart disease, cleft lip and palate, late pregnancy complications, different kinds of neurodegenerative and psychiatric diseases, osteoporosis and cancer. In addition, the inborn errors leading to hyperhomocysteinemia and homocystinuria are described. These extreme human hyperhomocysteinemia models provide knowledge about which part of the homocysteine and folate pathways are linked to which disease. For example, the very high risk for arterial and venous occlusive disease in patients with severe hyperhomocysteinemia irrespective of the location of the defect in remethylation or transsulphuration indicates that homocysteine itself or one of its "direct" derivatives is considered toxic for the cardiovascular system. Finally, common diseases associated with elevated homocysteine are discussed with the focus on cardiovascular disease and neural tube defects.



Molecular Pathway Annotations    Click to see Annotation Detail View

RGD Manual Annotations


  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
FOLH1Humanfolate cycle metabolic pathway   TAS  RGD 
Folh1Ratfolate cycle metabolic pathway   ISOFOLH1 (Homo sapiens) RGD 
Folh1Mousefolate cycle metabolic pathway   ISOFOLH1 (Homo sapiens) RGD 
SLC19A1Humanfolate cycle metabolic pathway   TAS  RGD 
SLC46A1Humanfolate cycle metabolic pathway   TAS  RGD 
Slc19a1Ratfolate cycle metabolic pathway   ISOSLC46A1 (Homo sapiens) RGD 
Slc19a1Mousefolate cycle metabolic pathway   ISOSLC46A1 (Homo sapiens) RGD 
Slc46a1Ratfolate cycle metabolic pathway   ISOSLC46A1 (Homo sapiens) RGD 
Slc46a1Mousefolate cycle metabolic pathway   ISOSLC46A1 (Homo sapiens) RGD 
MTRHumanfolate mediated one-carbon metabolic pathway   TAS  RGD 
MTRRHumanfolate mediated one-carbon metabolic pathway   TAS  RGD 
MtrMousefolate mediated one-carbon metabolic pathway   ISOMTR (Homo sapiens) RGD 
MtrRatfolate mediated one-carbon metabolic pathway   ISOMTR (Homo sapiens) RGD 
MtrrMousefolate mediated one-carbon metabolic pathway   ISOMTRR (Homo sapiens) RGD 
MtrrRatfolate mediated one-carbon metabolic pathway   ISOMTRR (Homo sapiens) RGD 
AHCYHumanhomocysteine metabolic pathway   TAS  RGD 
AhcyRathomocysteine metabolic pathway   ISOAHCY (Homo sapiens) RGD 
AhcyMousehomocysteine metabolic pathway   ISOAHCY (Homo sapiens) RGD 
MTHFRHumanhomocysteine metabolic pathway   TAS  RGD 
MthfrRathomocysteine metabolic pathway   ISOMTHFR (Homo sapiens) RGD 
MthfrMousehomocysteine metabolic pathway   ISOMTHFR (Homo sapiens) RGD 
MTRHumanmethionine cycle/metabolic pathway   TAS  RGD 
MTRRHumanmethionine cycle/metabolic pathway   TAS  RGD 
MtrRatmethionine cycle/metabolic pathway   ISOMTR (Homo sapiens) RGD 
MtrMousemethionine cycle/metabolic pathway   ISOMTR (Homo sapiens) RGD 
MtrrRatmethionine cycle/metabolic pathway   ISOMTRR (Homo sapiens) RGD 
MtrrMousemethionine cycle/metabolic pathway   ISOMTRR (Homo sapiens) RGD 
MTHFRHumanremethylation pathway of homocysteine metabolism - cobalamin dependent  TAS  RGD 
MTRHumanremethylation pathway of homocysteine metabolism - cobalamin dependent  TAS  RGD 
MTRRHumanremethylation pathway of homocysteine metabolism - cobalamin dependent  TAS  RGD 
MthfrMouseremethylation pathway of homocysteine metabolism - cobalamin dependent  ISOMTHFR (Homo sapiens) RGD 
MthfrRatremethylation pathway of homocysteine metabolism - cobalamin dependent  ISOMTHFR (Homo sapiens) RGD 
MtrMouseremethylation pathway of homocysteine metabolism - cobalamin dependent  ISOMTR (Homo sapiens) RGD 
MtrRatremethylation pathway of homocysteine metabolism - cobalamin dependent  ISOMTR (Homo sapiens) RGD 
MtrrMouseremethylation pathway of homocysteine metabolism - cobalamin dependent  ISOMTRR (Homo sapiens) RGD 
MtrrRatremethylation pathway of homocysteine metabolism - cobalamin dependent  ISOMTRR (Homo sapiens) RGD 
BHMTHumanremethylation pathway of homocysteine metabolism - cobalamin independent, betaine dependent  TAS  RGD 
BhmtRatremethylation pathway of homocysteine metabolism - cobalamin independent, betaine dependent  ISOBHMT (Homo sapiens) RGD 
BhmtMouseremethylation pathway of homocysteine metabolism - cobalamin independent, betaine dependent  ISOBHMT (Homo sapiens) RGD 
Objects Annotated

Genes (Rattus norvegicus)
Ahcy  (adenosylhomocysteinase)
Bhmt  (betaine-homocysteine S-methyltransferase)
Folh1  (folate hydrolase 1)
Mthfr  (methylenetetrahydrofolate reductase)
Mtr  (5-methyltetrahydrofolate-homocysteine methyltransferase)
Mtrr  (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)
Slc19a1  (solute carrier family 19 member 1)
Slc46a1  (solute carrier family 46 member 1)

Genes (Mus musculus)
Ahcy  (S-adenosylhomocysteine hydrolase)
Bhmt  (betaine-homocysteine methyltransferase)
Folh1  (folate hydrolase 1)
Mthfr  (methylenetetrahydrofolate reductase)
Mtr  (5-methyltetrahydrofolate-homocysteine methyltransferase)
Mtrr  (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)
Slc19a1  (solute carrier family 19 (folate transporter), member 1)
Slc46a1  (solute carrier family 46, member 1)

Genes (Homo sapiens)
AHCY  (adenosylhomocysteinase)
BHMT  (betaine--homocysteine S-methyltransferase)
FOLH1  (folate hydrolase 1)
MTHFR  (methylenetetrahydrofolate reductase)
MTR  (5-methyltetrahydrofolate-homocysteine methyltransferase)
MTRR  (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)
SLC19A1  (solute carrier family 19 member 1)
SLC46A1  (solute carrier family 46 member 1)


Additional Information