Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the
MECP2
gene. Since the
MECP2
gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of RTT patients; however, classical methylation-based protocols to evaluate XCI could not determine whether the preferentially inactivated X chromosome carried the mutant or the wild-type allele. Therefore, we developed an allele-specific methylation-based assay to evaluate methylation at the loci of several recurrent
MECP2
mutations. We analyzed the XCI patterns in the blood of 174 RTT patients, but we did not find a clear correlation between XCI and the clinical presentation. We also compared XCI in blood and brain cortex samples of two patients and found differences between XCI patterns in these tissues. However, RTT mainly being a neurological disease complicates the establishment of a correlation between the XCI in blood and the clinical presentation of the patients. Furthermore, we analyzed
MECP2
transcript levels and found differences from the expected levels according to XCI. Many factors other than XCI could affect the RTT phenotype, which in combination could influence the clinical presentation of RTT patients to a greater extent than slight variations in the XCI pattern.
stiffness and pulse wave velocity / Aorta and carotid arteries 137 (0.94 to 1.01) p = 0.096; Obesity OR = 0.47 (0.29 to 1.77) p = 0.003 and Diabetes OR = 2.41 (1.15 -5.05) p = 0.020. Conclusions: According to the results obtained, genetic polymorphisms variables were not in the multivariate analysis equation to determine the increase of the PWV, which can be explained either by being included in the selected variables such as hypertension, or on the other hand, they may not have enough strength to remain in the equation. So, according to this study, PWV has much more to do with behaviors and traditional risk factors than the genetic heritage.P883 Endothelial dysfunction, pulse wave velocity and augmentation index are correlated in subjects with systemic arterial hypertension?
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