Homozygous thermolabile methylenetetrahydrofolate reductase in schizophrenia-like psychosis

Journal of Neural Transmission
B ReglandA C Koch-Schmidt


The gene for methylenetetrahydrofolate reductase (MTHFR) has shown polymorphism in the general human population. In its homozygous form, a C677T mutation occurs in more than 5% of the grown-up population and produces a thermolabile variant which reduces the overall enzyme activity to less than 30% of normal. We investigated patients with schizophrenia-like psychosis. If hyperhomocysteinemic, their DNA-genotype for thermolabile C677T mutation was determined. Seven of 11 patients, six males and one female, were homozygous for thermolabile MTHFR. One male patient was heterozygous and all three normal homozygotes were females. In the patients who were homozygous for the C677T mutation, the homocysteine concentrations did not respond to vitamin B12 but were normalized by folate supplementation. In the normal homozygotes, however, the homocysteine concentrations were reduced by vitamin B12 alone. Our results suggest that homozygosity for thermolabile MTHFR is a risk factor for schizophrenia-like psychosis. Possibly, this risk may be reduced by folate supplementation.


Nov 8, 1975·Lancet·V M Andreoli, F Maffei
Dec 24, 1992·The New England Journal of Medicine·A E Czeizel, I Dudás
Jan 1, 1992·Clinical Neurology and Neurosurgery·O F BrouwerA C Peters
Jul 10, 1992·Cell·A Bird
Dec 15, 1992·Biological Psychiatry·T SargentT F Budinger
Aug 18, 1990·Lancet·P S GodfreyE H Reynolds
Apr 25, 1991·The New England Journal of Medicine·R ClarkeI Graham
Mar 1, 1990·Trends in Biochemical Sciences·E U Selker
Nov 15, 1989·Biochemical Pharmacology·C P LeBel, R A Schatz
Jan 1, 1988·Schizophrenia Bulletin·A E Harris
Jan 1, 1987·British Journal of Anaesthesia·J F Nunn
Jul 1, 1995·Neuroradiology·M van den BergJ Valk
Aug 26, 1995·Lancet·D R Weinberger
Oct 4, 1995·JAMA : the Journal of the American Medical Association·C J BousheyA G Motulsky
Jan 1, 1994·Journal of Neural Transmission. General Section·B ReglandC G Gottfries
Feb 2, 1995·The New England Journal of Medicine·J SelhubIrwin H Rosenberg
Nov 1, 1994·Acta Anaesthesiologica Scandinavica·A B GuttormsenP M Ueland
Dec 1, 1994·Metabolism: Clinical and Experimental·R P Steegers-TheunissenT K Eskes
Jun 1, 1994·Journal of Neurology, Neurosurgery, and Psychiatry·F PasquierJ Marquet
Jun 1, 1996·QJM : Monthly Journal of the Association of Physicians·M AdamsN J Samani
Jan 1, 1995·Journal of Neural Transmission. General Section·B ReglandM Medhus
Jan 15, 1997·Biological Psychiatry·J R SmythiesB Regland


May 24, 2013·Journal of Inherited Metabolic Disease·Mark WalterfangDennis Velakoulis
Jun 19, 2004·Journal of Psychiatric Research·Julia ApplebaumJoseph Levine
Jun 1, 2002·Ageing Research Reviews·Mark P MattsonWenzhen Duan
Feb 20, 2003·Trends in Neurosciences·Mark P Mattson, T B Shea
Sep 23, 2003·Brain Research. Molecular Brain Research·Ali SazciIhsan Kara
Apr 15, 2011·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Elinor BlumkinH Golan
Jun 27, 2002·American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice·B Schwahn, R Rozen
Jul 16, 2008·Psychosomatics·Amy A CanusoKaris A Stenback
Feb 9, 2011·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Peter SaetreErik G Jönsson
Jun 17, 2010·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Sarah Cohen-WoodsAnne Farmer
Aug 24, 2005·Progress in Neuro-psychopharmacology & Biological Psychiatry·Joseph LevineR H Belmaker
Aug 13, 2005·Progress in Neuro-psychopharmacology & Biological Psychiatry·B Regland
Aug 2, 2005·Progress in Neuro-psychopharmacology & Biological Psychiatry·A ReifKlaus-Peter Lesch
Aug 4, 2005·Progress in Neuro-psychopharmacology & Biological Psychiatry·Elisabet VilellaAntonio Labad
Jul 28, 2011·The International Journal of Neuropsychopharmacology·Anna BrombergG Agam
Aug 20, 2011·Psychiatry Investigation·Tae Ho Kim, Seok Woo Moon
Sep 4, 2010·Behavioural Brain Research·Tamar Levav-RabkinH Golan
Jan 17, 2017·Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova·T V ZhilyaevaL N Kasimova

Related Concepts

Oxidoreductases Acting on CH-NH Group Donors
Enzyme Stability
Hot Temperature
Methylenetetrahydrofolate reductase (NADPH)

Trending Feeds


Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Alzheimer's Disease: MS4A

Variants within the membrane-spanning 4-domains subfamily A (MS4A) gene cluster have recently been implicated in Alzheimer's disease in genome-wide association studies. Here is the latest research on Alzheimer's disease and MS4A.

Pediculosis pubis

Pediculosis pubis is a disease caused by a parasitic insect known as Pthirus pubis, which infests human pubic hair, as well as other areas with hair including eye lashes. Here is the latest research.

Rh Isoimmunization

Rh isoimmunization is a potentially preventable condition that occasionally is associated with significant perinatal morbidity or mortality. Discover the latest research on Rh Isoimmunization here.

Genetic Screens in iPSC-derived Brain Cells

Genetic screening is a critical tool that can be employed to define and understand gene function and interaction. This feed focuses on genetic screens conducted using induced pluripotent stem cell (iPSC)-derived brain cells. It also follows CRISPR-Cas9 approaches to generating genetic mutants as a means of understanding the effect of genetics on phenotype.

Enzyme Evolution

This feed focuses on molecular models of enzyme evolution and new approaches (such as adaptive laboratory evolution) to metabolic engineering of microorganisms. Here is the latest research.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Pharmacology of Proteinopathies

This feed focuses on the pharmacology of proteinopathies - diseases in which proteins abnormally aggregate (i.e. Alzheimer’s, Parkinson’s, etc.). Discover the latest research in this field with this feed.

Alignment-free Sequence Analysis Tools

Alignment-free sequence analyses have been applied to problems ranging from whole-genome phylogeny to the classification of protein families, identification of horizontally transferred genes, and detection of recombined sequences. Here is the latest research.