Résumé :
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Background Skeletal muscle dysfunction is the main clinical feature in patients with different types of spinal muscular atrophy (SMA). We consider that improper muscle irrigation could accelerate the progression of muscular dysfunction in these patients. However, we have no knowledge about studies regarding the association between polymorphisms in RAS system and SMA. The aim of this study was to test the association between ACE ID and AT1R A1166C polymorphism and SMA severity. Material and methods: this study has encompassed 69 SMA patients, classified by ISMAC criteria, and 100 controls. The blood samples were obtained from Bucharest pediatric hospital (patients) and from healthy voluntaries (control group). Patients were selected after informed consent obtaining and confirmation of SMA by molecular diagnosis (homozygous deletion of exon 7 and 8 in SMN1 gene). Patients and controls were matched for sex and ethnicity. The ACE ID and ATR1 A1166C genotypes were established in all samples by PCR and PCR-RFLP methods. Chi square test were used for comparisons between lots and a p < 0.05 was considered significant Results and discussion. The distribution of genotypes in both lots is in concordance with Hardy-Weinberg equilibrium (?2=0,62 for SMA lot and ?2=2,17 for control lot). The frequency of genotypes and alleles in patients and control lot are similar (ACE D: 57% versus 57% and ATR1 A: 75% versus 73%). We observed that 14,5% of patients and 11% of controls are homozygous for ACE DD and ATR1 AA. However, the potential association between combination of these polymorphisms and SMA severity must be reevaluated in a much powerful studies. In conclusion, our study indicated a lack of association between individual polymorphisms in ACE and ATR1 genes and SMA severity. To obtain more precisely data, a larger number of SMA patients will need to be examined in the future.
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