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Monday, July 31, 2006

Genetic medical advances.

In Peru and the rest of the world exist a series of known genetic affections called Muscular Dystrophies (MD + -: 20 variants), in which a mutation in a segment of the DNA, annuls the production of dystrophin, a protein that allows the healthful maintenance of the muscles fibers and adequate contraction. It is calculated that in Peru, exist about 8000 -12 000 affected (the number could be greater). The people are affected around : 2 - 11- or, 20 years old and are identified because they develop progressive muscular weakness that prevents them to walk, fall frequently, breathes bad, cannot raise stairs, etc. Sometimes the MD, affects initially muscles of pelvis and limbs (D. Duchenne), or imposes difficulty to move muscles of face, shoulders and members (D. Fascio-scapulo-humeral), although at the end all muscles are affected, being that in average the distrophics pass away before the 25 years old.

The interesting thing, is that today, in the era of the molecular medicine and manipulation of stem cells, several scientific are designing (experimenting first in mice), new modalities of treatment. Chamberlain of the University of Washington has injected genes with normal distrophin, lead by virus, directly to affected muscular cells, obtaining an improvement of 40%, of the muscular activity in old mice. Giulio Cossu of the Institute of Investigation of Stem Cells, in Milan, has injected modified stem cells (by insertion of a gene inductive of normal dystrophin), to which after reproducing, spread them into the sanguineous torrent, managing to improve several cases of muscular dystrophy that affected Girdle-Limbs. Now Mani Mahadevan, of the University of Virginia the USA, has silenced the defective message of mRNA (RNA messenger: defective information carrier: distrophin absence), obtaining a remarkable improvement in mice. When these improved techniques, will be applied to diseased persons, the humanity began to attend the disappearance of a series of related calamitous genetic diseases.

Avances médicos genéticos

Existen en el Perú y el resto del mundo, una serie de afecciones geneticas conocidas como Distrofias Musculares (DM+- : 20 variantes), en las que la mutación de un segmento del DNA, anula la producción de distrofina, una proteina que permite el mantenimiento saludable de los músculos y una adecuada contracción. Entre potenciales y enfermos, podrian existir unos 8000 -12 000 afectados (la cifra podria ser mayor), en el Peru. Se identifica a los afectados, porque entre los 2- 11 o, 20 años desarrollan debilidad muscular progresiva que les impide caminar, se caen frecuentemente, no se paran bien, respiran mal, no pueden subir escaleras, etc. A veces afecta inicialmente músculos de pelvis y miembros (E. Duchenne), o impone dificultad para mover musculos de cara, hombros y miembros superiores (E. Fascio-escapulo-humeral), aunque al final todos los músculos son afectados, resultando que en promedio los distróficos, fallecen antes de los 25 años.

Lo interesante, es que hoy, en la era de la medicina molecular y manipulación de celulas madre se estan diseñando (experimentando primero en ratones), nuevas modalidades de tratamiento. Jefrey Chamberlain de la Universidad de Washington ha inyectado genes con distrofina normal, conducidas por virus, directamente a células musculares afectadas, consiguiendo una mejoria del 40 %, de la actividad muscular en ratones viejos. Giulio Cossu del Instituto de Investigación de Células Madre, en Milán, ha inyectado células madre modificadas (por inserción de gene inductor de distrofina normal), a las que trás reproducirlas, las vertió al torrente sanguineo, logrando mejorar varios casos de distrofia muscular que afectaban Cintura-Extremidades . Ahora Manu Mahadevan, de la Universidad de Virginia USA, ha silenciado el mensaje defectuoso del mRNA (RNA mensajero: portador de información defectuosa: ausencia de distrofina), logrando una notable mejoria en ratones . Cuando estas tecnicas mejoradas, se apliquen a seres humanos, la humanidad empezará a asistir a la desaparición de una serie de enfermedades genéticas calamitosas relacionadas.


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