A clustering of unfavourable common genetic mutations in stroke cases

Objectives - The aetiological role of common genetic mutations was analysed in a subgroup of stroke patients, il Material and methods - A total of 406 patients were examined because of ischaemic stroke. After a detailed clini cal scrutiny, 5 were found who did not exhibit any of the classical clinica l risk factors. In this clinically homogeneous subgroup of stroke patients, the prothrombin A20210G, Hong Kong, Cambridge and methylenetetrahydrofolat e reductase C677T (MTHFR C677T) mutations, angiotensin-converting enzyme po lymorphism (ACE polymorphism) and apolipoprotein E (APO E) genotype were ex amined. Results - In all 5 patients, the same type of clustering of three m utations was manifested. A heterozygous Leiden V mutation was observed in a ll 5 subjects, while a heterozygous MTHFR C677T mutation and an I/D genotyp e for ACE polymorphism were detected in 4 of them, and a homozygous D/D gen otype and a homozygous MTHFR C677T mutation in 1. This type of clustering o f the mutations was not observed in the remaining 401 stroke patients. Conc lusion - These results suggest that the Leiden mutation might possibly be a n aetiological factor for stroke in a rare subgroup of patients who do not display any of the classical risk factors. The roles of ACE D polymorphism and the MTHFR C677T mutation in stroke, should also be taken into considera tion in this subgroup of stroke patients. These unfavourable genetic factor s might be aetiological factors ii-they are clustered together in a stroke patient not presenting any of the standard clinical risk factors.