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MARIA CECILIA LARDONE

BIOQUIMICA
Proferor Asistente
Unidad de Andrología Molecular y Reproductiva

mlardone@med.uchile.cl
ANEXO 70867

Bioquímico de la Universidad Juan A. Maza, Mendoza, Argentina (2000). Magister en Ciencias Biológicas con mención en Biología de la Reproducción (2009) y Doctorado en Ciencias Biomédicas de la Universidad de Chile (2016). Académico de la Facultad de Medicina de la Universidad de Chile desde 2012. Su principal interés se relaciona con las causas genéticas y endocrinas de la falla testicular primaria y consecuencias de la disfunción esteroidogénica de la célula de Leydig en hombres con falla espermatogénica. Su reciente línea de investigación relaciona algunos polimorfismos de genes asociados con el desarrollo puberal y su efecto en la calidad seminal en hombres adultos.

Genome-wide association study and polygenic risk scores of serum DHEAS levels in a Chilean children cohort. José Patricio Miranda, María Cecilia Lardone, Fernando Rodríguez, Gordon B Cutler, Jr, José Luis Santos, Camila Corvalán, Ana Pereira, Verónica Mericq. The Journal of Clinical Endocrinology & Metabolism, (2021). doi.org/10.1210/clinem/dgab814.
Testicular steroid sulfatase overexpression is associated with Leydig cell dysfunction in primary spermatogenic failure. Lardone MC, Reyes IN, Ortiz E, Piottante A, Palma C, Ebensperger M, Castro A*. Andrology 9 (2):657-664, 2021.
Partial-AZFc deletions in Chilean men with primary spermatogenic impairment: gene dosage and Y-chromosome haplogroups. María Cecilia Lardone, Victoria Ortega, Eliana Ortiz, Martha Flórez, Antonio Piottante, Mauricio Ebensperger, Sandra Flores, Patricio Pezo, Michael Orellana, Mauricio Moraga and Andrea Castro. J Assist Reprod Genet, 2020. doi.org/10.1007/s10815-020-01957-6
A Polygenic Risk Score suggests shared genetic architecture of voice break with early markers of pubertal onset in boys. María C. Lardone, Alexander S. Busch, José L. Santos, Patricio Miranda, Susana Eyheramendy, Ana Pereira, Anders Juul, Kristian Almstrup, and Verónica Mericq. J Clin Endocrinol Metab, 2020, 105(3):1–9. doi:10.1210/clinem/dgaa003
Role of the androgen receptor gene CAG repeat polymorphism on the sequence of pubertal events and adiposity in girls with high dehydroepiandrosterone sulfate. Lardone MC, Castro A, Pereira A, Corvalán C, Ortíz E, Mericq V*. J Pediatr Adolesc Gynecol 32 (2019) 271-277.
Leydig cell dysfunction is associated with post-transcriptional deregulation of CYP17A1 in men with Sertoli cell-only syndrome. Lardone MC, Argandoña F, Lorca M, Piottante A, Flórez M, Palma C, Ebensperger M, Castro A*. Mol Hum Reprod. 2018 Feb; 24(4): 203-210.
Implicancias del polimorfismo de repeticiones de glutamina del receptor de andrógenos en la presentación de eventos peripuberales. Lardone MC y Mericq V. Rev. chil. endocrinol. diabetes 2017; 10 (4).
Disturbed testicular expression of the estrogen-metabolizing enzymes CYP1A1 and COMT in infertile men with primary spermatogenic failure: possible negative implications on Sertoli cells.Andrology. Parada-Bustamante A*, Molina C, Valencia C, Flórez M, Lardone MC, Argandoña F, Piottante A, Ebensperguer M, Orihuela PA, Castro A. 2017 May;5(3):486-494.
Pseudoautosomal Abnormalities in Terminal AZFb+c deletions are Associated with Isochromosomes Yp and may lead to Abnormal Growth and Neuropsychiatric Function. Castro A*, Rodríguez F, Flórez M, López P, Curotto B, Martínez D, Maturana A, Lardone MC, Palma C, V. Mericq, M. Ebensperger, and Cassorla F. Human Reproduction. 2017 Feb;32(2):465-475.

2012 - 2016 - Co-Investigador FONDECYT REGULAR # 1120176 MOLECULAR STUDY OF LEYDIG CELL FUNCTION IN TESTICULAR TISSUE OF PATIENTS WITH PRIMARY SPERMATOGENIC FAILURE (IP María Andrea Castro).
2015 - 2016 - Investigador Principal Beca de la Sociedad Chilena de Endocrinología y Diabetes ANDROGEN RECEPTOR GENE CAG REPEAT POLYMORPHISM IN GIRLS WITH PREMATURE ADRENARCHE: CORRELATION WITH PUBERTAL EVENTS
2017 – 2021 Co- Investigador FONDECYT REGULAR # 1170895 CONTRACEPTION IN TYPE 1 DIABETES (IP Ethel Codner).
2020 – 2023 Investigador Principal FONDECYT INICIACIÓN # 11200898 THE ROLE OF LIN28B POLYMORPHISMS IN HUMAN TESTICULAR FUNCTION