Gene polymorphism of methylentetrahydrofolate reductase C 677T in ischemic stroke at young age

Number of young people with ischemic stroke increases at the present. One of independent risk factors of stroke is hyperhomocysteinemia, wich can be caused by genetic disorders. Objective: to analyze frequency of gene polymorphism of methylentetrahydrofolate reductase C 677T and level of homocysteine among patients with stroke and people without one. Materials and methods. Data of 141 young patients with ischemic stroke, including 30 people with atherothrombotic stroke, 35 with cardioembolic, 36 with lacunar and 40 ones with cryptogenic stroke were analyzed. The control group included 40 young patients without stroke. Results. The frequency of polymorphism MTHFR C 677T (OR = 6,7; 95 % CI: 1,20–37,45: р = 0,027), allel T (OR = 2,29; 95 % CI: 1,10–4,74; р = 0,028) and the level of homocysteine are higher among stroke patients.

Pulmonary and Cerebral Infarcts Due to Secondary Thrombosis Risk of a Genetic Mutation: Life-threating Methylentetrahydrofolate Reductase (MTHFR) Deficiency with Early Onset

Methylentetrahydrofolate reductase (MTHFR) is a key enzymatic component of the folate cycle, converting 5,10-methylentetrahydrofolate into 5-methylentetrahydrofolate. Severe MTHFR deficiency is a rare recessive disease leading to major hyperhomocysteinemia, homocystinuria, and progressive neurological distress within the two first decades of life.We present the case of a young, 21 years old female patient who was admitted and treated in Clinic of Pneumology Tirgu Mures for a posterobasal left pneumonia without favourable radiologic evolution under antibiotic and symptomatic treatment. Thoracotomy was recommended in order to elucidate the diagnosis. The histopatological examination revealed the zone of pulmonary infarction. After 12 weeks from surgical intervention, the patient was admitted in Department of Neurology for stroke attack. The complex laboratory investigations reveal deficiency of methylentrahydrofolate reductase (MTHFR) caused by a genetic mutation.