Líneas de investigación

• Functional validation of paternally-derived embryo proteins during early embryogenesis

  The goal of this line emerges from the recent results derived from the integrative analysis of the proteome and transcriptome from human sperm, oocyte and early embryo (Castillo et al., 2018). We have started the validation of those results using a mouse model.

• Characterization of exosomes isolated from seminal fluid and development of clinically relevant diagnostic and prognostic biomarkers

  Exosomes contained in the seminal fluid may contribute proteins and RNAs to the sperm. Our first goal is to characterize the protein and RNA content of seminal exosomes in fertile patients   and measure their impact  in male infertility.

• Characterization of epigenetic signatures in the sperm chromatin

  We have identified a non-random distribution of proteins and genes along the sperm chromatin domains which may represent epigenetic marks involved in normal embryo development. We aim to decipher the involvement of specific post-translational modifications of sperm chromatin-associated proteins on the generation of the new individual and their alterations in idiopathic infertile patients.

• Molecular alterations in semen from couples with idiopathic infertility

  Molecular alterations at the transcriptiomic and proteomic level are analyzed in sperm and seminal plasma from couples with idiopathic infertility based on the outcome of the assisted reproduction technique used. Our last goal is to translate these results to the development of clinically useful tools to predict the success of reproductive technologies.

• Genetics of endocrine disorders

  We are  studying the genetic aspects of hereditary endocrine disorders (multiple endocrine neoplasia, congenital adrenal hyperplasia and monogenic diabetes) for which we are a reference centre. Our interest also contribute to a better understanding of the genotype-phenotype correlations in these syndromes.

• Characterization of genes involved in the familial non-syndromic differentiated thyroid carcinoma

  Differentiated familial thyroid carcinoma represents 3-9% of thyroid carcinomas. Today, the genes involved in some rare syndromic forms in which the differentiated thyroid carcinoma is part of its phenotypic spectrum are already known. On the other hand, most cases of familial differentiated thyroid cancer are non-syndromic and in these, the genetic causes are still unknown. Therefore, we are studying the exome in families that present three or more cases of differentiated thyroid carcinoma each. The identification of genetic factors predisposing to differentiated familial non-syndromic thyroid cancer would open the door not only to the identification of carriers and non-carriers and to genetic counseling, but also to the identification of cellular signaling pathways involved in this type of hereditary cancer and perhaps also in the sporadic one.

• Mechanisms involved in redifferentiation of cancer cells

  Oncogenesis is essentially a cell dedifferentiation process. Molecules that induce  cell differentiation, such as retinoic acid, have been used for cancer therapy. However, we have shown that retinoic acid activates the pro-invasive pathway Src-Yap-Il6 in MDA-MB-231 triple negative breast cancer cells. At present we study the mechanisms used by statins to block the pro-invasive action of retinoic acid.