Knowing the gen of Cystic Fibrosis

Víctor Asensio has a PhD in Biology and works at the Genetics Department of the Hospital Universitario Son Espases. In this informative capsule, Dr. Asensio will help us to know the gene of Cystic Fibrosis.
Everything begins with the heel prick test, which will mark the medical future of the baby. With a small blood sample, the hospital laboratory will make a screening with the immunoreactive trypsinogen test to detect those cases suspected of having Cystic Fibrosis. Between 7 and 10 suspicious samples arrive every week to the Genetics Department and there, a DNA extraction is made to look at the 50 mutations that prevail when diagnosing the "classic" Cystic Fibrosis, that is to say, the one that presents the most common and recognizable symptoms.
There is an international database that brings together all the mutations that have been described. Currently, 2000 mutations affecting the gene are known, but not all of them will cause Cystic Fibrosis, so they are classified according to the frequency with which they occur in people with this disease. Therefore, we can speak of causal mutations of Cystic Fibrosis, others that will cause a more attenuated Cystic Fibrosis (it presents some symptoms but does not meet the conditions of a classic one), others that are benign and others that it is not known what effects they produce.
On the other hand, mutations can be classified according to whether they modify the genetic code in one way or another. Therfore, knowing that DNA has the information to produce proteins, if the chromosome reads a letter or a word that is not correct, the production of the protein will be affected, either causing it not to perform its function correctly or it will not be able to synthesize the protein.
The effects of a misreading, depending on where it occurs, can produce the following effects:
- That the protein localizes within the cell, such as F508del, but does not reach the cell surface.
- That the protein is not synthesized because there is a so-called "codon stop", i.e. a misplaced period in the genetic text.
- That the protein has the channel to reach the cell surface but does not open and does not facilitate its function.
For the treatment of Cystic Fibrosis, knowing the effects of these mutations is very important, since the drugs are studied individually for each type of mutation. Currently, drugs such as Kaftrio attack the problem of mutations in which the protein is inside the cell, which is what it should be always. Its action can be focused on increasing the number of proteins that go to the surface or on opening or widening the channel for sodium and chloride ion exchange to take place.
Although it is logical that a family may be interested in the possible symptoms that their child will have in the future according to their mutations, Dr. Asensio discovers that Cystic Fibrosis is not only influenced by this gene, but also by the rest of the genetic code. Therefore, it is likely that with the same mutations, each individual will respond differently to infections or malnutrition. In addition, he points out that daily life, i.e., whether or not one leads a healthy lifestyle, also influences the response to these health disturbances.
The conclusion is that we must enjoy the periods in which the Cystic Fibrosis respects our child and not to think about if he/she will be able to have one symptom or another because the statistics say so. Each person is a world, so anticipating in a negative way possible situations that may never occur, only produces states of anxiety and restlessness that do not help the development of our child. The team of specialists focuses on the individual and not on the probabilities of having this or that symptom and will act on each specific symptom that comes up at the right time.
We must trust medical judgment and, above all, enjoy parenthood in the good times, which will probably be much more frequent than the bad times.
#TogetheragainstCF

[@paz6279]

Víctor, ¡mil gracias por colaborar con nosotros! Muy bien explicado todo. Uf, qué números... no pensaba que hubiera tantos bebés con TIR elevada en Baleares (¡¡entre 7 y 10 casos semanales!!). Menos mal que se traduce en unos números mucho menores de personas con FQ (2-3 cada dos años; 1 FQ de cada 6.400 nacidos). Confiamos en que cada vez se vaya conociendo más sobre mutaciones (genotipo) y sintomatología asociada (fenotipo) y que se siga avanzando en un diagnóstico cada vez más ajustado a la sintomatología asociada posible, para reducir angustias y sinsabores en estos primeros momentos del diagnóstico.

[@franalvesassis3570]

Em Barcelona recebem o Trikafta do governo???

[@respiralia-ABFQ]

Sí. Desde el 1/12/21 se está dando en todas las comunidades de España, aunque en algunas el proceso es más lento. Cataluña fue de las primeras en darlo