Abstract
This study aims to report the correlation of MTHFR gene mutation with the genesis of depression and antidepressants non-response in a patient, highlighting the importance of genetic investigation and indicating the replacement of L-methylfolate as an effective treatment adjuvant. This is a case report of a patient diagnosed with major depressive disorder, refractory to pharmacological therapies, in monotherapy or combination therapy, and psychotherapy. After 1 year and 4 months of persistent residual symptoms, genetic testing of the MTHFR gene was requested with confirmation of a heterozygous double mutation of MTHFR. This gene polymorphism can result in deficiency of L-methylfolate, which is related to psychiatric diseases and refractoriness to antidepressant therapy. With the introduction of l-methylfolate 15mg, the patient reported remission of depressive symptoms in 4 months of follow-up. MTHFR gene mutations influence the action of folate, favoring depression and leading to refractory response to conventional treatment.
Highlights
Several studies show genetic influence on depression
Methionine is converted into a methyldonor, S-adenosylmethionine (AdoMet, SAM), which is used for the methylation of DNA and proteins
The objective of this study is to report the correlation of methylenetetrahydrofolate reductase (MTHFR) gene mutation with the genesis of depression and refractoriness to treatment with antidepressants in a patient, highlighting the importance of genetic investigation in the depression that is refractory to antidepressant therapy, indicating the replacement of L-methylfolate as an effective treatment alternative in these cases
Summary
Several studies show genetic influence on depression. One of the genes involved in unipolar depression is MTHFR, which encodes the enzyme methylenetetrahydrofolate reductase (MTHFR).[1] Located at the end of the short arm of chromosome 1 (1p36.3), containing 11 exons and at least 65 documented variants, it plays a central role in folate metabolism.[2,3] MTHFR enzyme catalyzes the conversion of 5-10methylenetetrahydrofolate to 5-methyltetrahydrofolate, or L-methylfolate (active form of folate) which, in its turn, is a substrate for converting homocysteine to methionine.[4] Methionine is converted into a methyldonor, S-adenosylmethionine (AdoMet, SAM), which is used for the methylation of DNA and proteins. Lmethylfolate is an important regulator of a crucial cofactor for the synthesis of monoamines, tetrahydrobiopterin (BH4). The enzymes requiring BH4 as a cofactor are both tryptophan hydroxylase, the rate-limiting enzyme in the synthesis of serotonin, and tyrosine hydroxylase, which is the rate-limiting enzyme in the synthesis of dopamine and noradrenaline.[3,5] the importance of MTHFR in the synthesis of folate and in the epigenetics of the regulation of monoamine levels can be noticed
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