[Importance of genetics in osteoartrosis]. / Importancia de la genética en la osteoartrosis.

INTRODUCTION: The study of our genome has played an important role in the field of personalized medicine and clinical practice becoming a useful tool to assist the medical community in the early diagnosis and treatment of countless diseases; osteoarthritis (OA) is a complex chronic degenerative joint disease, despite the high prevalence of this disease and its great impact on public health, little is currently known about its etiology and risk of progression. The purpose of this review is to show the advances in genetics in the study of osteoartrosis. METHODS: The present is a review of the literature of the different aspects in which genetics has developed in the study of osteoartrosis, its scopes and its possible impact on prevention and treatment. CONCLUSION: The identification of a high number of candidate genes confirms the complex nature of the disease, it seems clear that the degree of expression of different genes is altered between an arthrosic patient and a healthy one. A deeper understanding of the link between the entire genome sequence and the association with well-characterized OA phenotypes will enable the development of biomarkers, report the risk of disease progression and allow better guidance of treatments.

INTRODUCCIÓN: El estudio de nuestro genoma ha jugado un papel importante en el campo de la medicina personalizada y la práctica clínica, lo que la convierte en una herramienta útil para ayudar a la comunidad médica en el diagnóstico y tratamiento temprano de innumerables enfermedades. La osteoartrosis (OA) es una enfermedad articular degenerativa crónica compleja; a pesar de su alta prevalencia y gran impacto en la salud pública, actualmente se sabe poco sobre su etiología y riesgo de progresión. El objeto de la presente revisión es mostrar los avances de la genética en el estudio de la osteoartrosis. MÉTODOS: Revisión de la literatura sobre los diferentes aspectos en donde la genética se ha desarrollado en el estudio de la osteoartrosis, sus alcances y sus posibles repercusiones en la prevención y tratamiento. CONCLUSIÓN: La identificación de un elevado número de genes candidatos nos confirma la compleja naturaleza de la enfermedad, parece claro que el grado de expresión de diferentes genes está alterado entre un paciente artrósico y uno sano. Una comprensión más profunda del vínculo entre la secuencia de todo el genoma y la asociación con fenotipos bien caracterizados de la OA, permitirá el desarrollo de biomarcadores, informar el riesgo de progresión de la enfermedad y permitir una mejor orientación de los tratamientos.

[Detection of heterozygotes for ataxia telangiectasia using sensitivity to ionizing radiation]. / Detección de heterocigotos de ataxia telangiectasia por la sensibilidad a la radiación ionizante.

Recent research have demonstrated that homozygotic and heterozygotic patients with ataxia telangiectasia (AT) show chromosomal rupture. Taking in consideration this characteristic, a study was designed, inducing chromosomal breaks in granulocytes from patients with AT, and heterozygotic carriers of AT compared with a group of healthy individuals. The number of chromosomic ruptures induced by 14 doses of radiation at 125 KV and 125 mA, was measured in all of them. Results suggest significant differences in the number of chromosomal structural alterations induced by radiation in granulocytes from heterozygotic carriers of AT, similar to structural alterations in lymphocytes from patients with AT. It is demonstrated that these alterations occur preferentially in one group C chromosome, both in homozygotic and heterozygotic patients with AT.