Intracranial Major Artery and Venous Sinus Thrombosis in a Young Male with MTHFR Mutation and Protein S Deficiency

This case represents a unique example of stroke in a young patient involving major venous sinuses as well as major artery in a span of 6 months. After evaluation, he was found to have an abnormal thrombophilia profile. In young patients with recurrent stroke, investigating for an abnormal thrombophilia profile is crucial.

5-methyltetrahydrofolate: A mandatory support for T677T MTHFR SNP women suffering from premature ovarian insufficiency, endometriosis and/or multiple ART failures

A patients, age 39 in 2019, suffering hypermenorrhea, secondary dysmenorrhea and endometriosis with pelvic adhesions, Normal physical examination with an AMH value of 0.877 ng/L . At this time the couple had been trying to conceive for over 2 years while taking nature made prenatal vitamins and the wife was given 9 rounds of clomid treatments (6–50 mg, 3- 100 mg). She was advised to take DHEA and then started IUI and IVF with no success. On August, 2020, it was elected to check the couple for MTHFR mutation. The woman was found to be homozygous for T677T MTHFR mutation and her spouse homozygous for the C1298C MTHFR mutation but with a subnormal sperm. The patient and her spouse were both advised to discontinue any vitamins containing folic acid and start vitamins with a daily dose of 1,000 mcg of 5-MTHF (folate) with chelated zinc and a vitamin B complex. On December, 2020 spontaneous conception occurred. On July 27, 2021, a healthy 48.26 cm (19 inches), 3 kg (6 pounds 9 ounces) girl was delivered by c-section. Keywords: MTHFR 677TT SNP; endometriosis; ART failures; premature ovarian insufficiency; 5MTHF.

Methylene Tetrahydrofolate Reductase (MTHFR) Mutation in a Young Patient with Stroke: A Case Report

The etiology of young stroke is mainly contributed by genetic mutations in coagulation and metabolic pathways. We present a 29-year-old male, who presented with headache and weakness and later diagnosed to have posterior cerebral artery territory infarct. We highlight MTHFR mutation as an etiology of young stroke and the importance of family screening in such patients.

MTHFR rs1801133 polymorphism in Bangladeshi population – its prevalence and detection

Methylenetetrahydrofolate reductase (MTHFR) has been reported as a key enzyme not only for intracellular folate homeostasis but also for metabolism. A particular variant (G677A) leads to an altered amino acid, which ultimately causes decreased enzyme activity and may modulate the risk of causing several chronic diseases. The purpose of this study was to detect the pervasiveness of this variant MTHFR rs1801133 G677A in the Bangladeshi population. We applied allele-specific polymerase chain reaction (AS-PCR) to determine the genotypes at the rs1801133 in the Bangladeshi population. We performed targeted sequencing of the AS-PCR product of randomly selected samples. Out of the 181 Bangladeshi individuals, 71.8% had homozygous 677GG genotype, while 28.2% comprised of heterozygous 677GA genotype. No individual with the homozygous 677AA genotype was found in this representative Bangladeshi population. The 677G alleles had higher frequency (0.856) compared to 677A alleles (0.144) at the rs1801133 locus. Though the more risky homozygous 677AA genotype at the rs1801133 locus is absent in the Bangladeshi population, further association studies can be performed to identify the role of MTHFR mutation in the susceptibility to different multifactorial diseases.

Covid-19 Pandemic and Possible Links with Mthfr Mutations, Homocysteinemia, and Metabolic Disturbances: Short Review

Coronovirus-19 (COVID-19) is an associate degree infection caused by the SARS-CoV-2 virus inflicting a worldwide pandemic and chiefly characterized by respiratory symptoms, many times accompanied by a cytokine storm. It causes migration of the neutrophils, macrophages and inflammatory cytokines resulting in the destruction of the alveolar-capillary walls. Coagulopathy in patients with COVID-19 may be a common complication that jeopardizes the clinical course and is related to poorer outcomes and probable death. The methylenetetrahydrofolate enzyme (MTHFR) is coded by the gene with the image MTHFR on chromosome one location p36.3 in humans, and there are desoxyribonucleic acid sequence variants (genetic polymorphisms) related to this gene. However, the 2 commonest ones are C677T and A1298C. Deficiencies within the production of this accelerator are related to raise risk of cardiac muscle infarctions, stroke, thrombosis, and several conditions. Homocysteine (Hcy) is a chemical in the blood formed when the amino acid methionine, a building block of the proteins, is naturally metabolized to be excreted in the urine; throughout this breakdown method, our body will recycle homocysteine to be reused to make different proteins. For this utilization, we need vitamins B12, B6, and folate. Also, for utilization to be the foremost economical, the accelerator MTHFR is needed. Transmissible mutations within the factor that create the MTHFR accelerator will result in an associate degree accelerator that’s not optimally active and should result in elevated homocysteine levels. Several medical conditions, like vascular disorders, obesity, diabetic disorder, peripheral neuropathy, and thrombophilia’s inside others, are associated with high Hcy levels and MTHFR mutations. Few reports link the high risk and poor prognosis with COVID-19 with MTHFR mutation and metabolic disorders like obesity and Diabetes mellitus. In this this review, we provide recommendations to prevent complications in patients with COVID, MTHFR mutations, Diabetes, and Obesity.