El Dr. Cristian Carvajal Maldonado es Magister en Bioquímica y Doctor en Ciencias Medicas (PhD). Actualmente es Profesor Asistente del Departamento Endocrinología en la Pontificia Universidad Católica de Chile. Correo electrónico: firstname.lastname@example.org; email@example.com, Anexos: 2354 3639
Líneas de Investigación
Primary aldosteronism and partial 11βHSD2 activity are causes of endocrine arterial hypertension. We recently (2012) suggested – in a prospective study with more than 300 subjects- a high prevalence of either primary aldosteronism (10%) and impairment of 11βHSD2 activity (15%). Current clinical and biochemical testing developed by our group, based on detection of a aldosterone, plasma renin activity (PRA), cortisol and cortisone by LC-MSMS, is confirming our preliminary data and identifying a high prevalence (25%) of both pathologies in Chilean hypertensive population. Genetic testing of studied subjects identified a low frequency of MR and HSD11B2 genetic alterations, which led us to postulate that epigenetic modifications, such as CpG methylation and miRNA profiles, in MR, HSD11B2 and MR-associated genes influence dynamically the onset and progression of the endocrine hypertensive disease. In this respect, we recently proposed that 11BHSD2 activity is negatively associated to age and salt consumption, which could be determined by epigenetic modifications. These epigenetic changes mainly involve DNA methylation (at cytosine-guanine (CpG) sites) and specific miRNA signatures. Our growing research is focused to identify epigenetic marks as CpG methylation and specific miRNA in key genes (mainly MR, HSD11B2 & MR-associated genes) affecting transcriptional and post-transcritional regulation through in vivo, in silico and in vitro assays.