Terapia genética en la enfermedad de células falciformes

Dr. Fidel Mackenzie Visbal
Médico General, San José, Costa Rica.
Investigador independiente.
Miembro del Colegio de Médicos y Cirujanos de Costa Rica.
Costa Rica.

Dra. Mariana Vílchez León
Médico General, San José, Costa Rica.
Investigadora independiente.
Miembro del Colegio de Médicos y Cirujanos de Costa Rica.
Costa Rica.

Resumen

La enfermedad de células falciformes (ECF) es la patología hematológica hereditaria más prevalente a nivel mundial, que afecta a alrededor de 330 000 nacimientos por año. Esta patología presenta complicaciones agudas, siendo las principales: crisis de dolor, anemia, priapismo, infecciones, síndrome torácico agudo, eventos cerebrovasculares y secuestro esplénico. De forma crónica se presentan complicaciones en órganos como cerebro, ojos, corazón, riñones, pulmones e hígado. Con el advenimiento de las nuevas tecnologías, se han podido crear vectores lentivirales para la transducción de material genético en células CD34+, a través de los cuales se pueden realizar modificaciones genéticas, tales como la adición de genes de β y γ-globina y procesos de edición del genoma que permiten la corrección del defecto genético o la inducción de la expresión de hemoglobina fetal (HbF). Gracias a este desarrollo tecnológico, la terapia génica se perfila como el tratamiento curativo de la ECF por excelencia en los próximos años, por todas sus ventajas en comparación con el único tratamiento definitivo disponible, el trasplante de células hematopoyéticas.

Palabras claves

Drepanocitosis, terapia génica, edición genética, β-globina, γ-globina.

Abstract

Sickle cell disease (SCD) is the most prevalent hereditary disease worldwide, affecting around 330,000 births per year. This pathology presents acute complications, the main ones being pain crises, anemia, priapism, infections, acute thoracic syndrome, cerebrovascular events and splenic sequestration. Chronically there are complications at the level of organs such as brain, eyes, heart, kidneys, lungs and liver. With the advent of new technologies, it has been possible to create lentiviral vectors for the transduction of genetic material in CD34+ cells, through which genetic modifications can be made, such as the addition of β and γ-globin genes, and Genome editing processes that allow the correction of the genetic defect or the induction of the expression of fetal hemoglobin (HbF). Thanks to this technological development, gene therapy is emerging as the curative treatment of ECF par excellence in the coming years, with all its advantages compared to the only definitive treatment available, the transplantation of hematopoietic cells.

Keywords

Sickle cell disease, gene therapy, genetic edition, β-globine, γ-globine.

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