La biologie moléculaire est-elle utile au praticien [Is molecular biology useful to the practitioner?]

Détails

ID Serval
serval:BIB_FBC450192D18
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Titre
La biologie moléculaire est-elle utile au praticien [Is molecular biology useful to the practitioner?]
Périodique
Schweizerische medizinische Wochenschrift
Auteur(s)
Waeber G., Haefliger J.A.
ISSN
0036-7672
Statut éditorial
Publié
Date de publication
1997
Peer-reviewed
Oui
Volume
127
Numéro
13
Pages
554-60
Langue
français
Notes
Publication types: English Abstract ; Journal Article ; Review - Publication Status: ppublish
Résumé
The relative importance of molecular biology in clinical practice is often underestimated. However, numerous procedures in clinical diagnosis and new therapeutic drugs have resulted from basic molecular research. Furthermore, understanding of the physiological and physiopathological mechanisms underlying several human diseases has been improved by the results of basic molecular research. For example, cloning of the gene encoding leptin has provided spectacular insights into the understanding of the mechanisms involved in the control of food intake and body weight maintenance in man. In cystic fibrosis, the cloning and identification of several mutations in the gene encoding the chloride channel transmembrane regulator (CFTR) have resolved several important issues in clinical practice: cystic fibrosis constitutes a molecular defect of a single gene. There is a strong correlation between the clinical manifestations or the severity of the disease (phenotype) with the type of mutations present in the CFTR gene (genotype). More recently, identification of mutations in the gene encoding a subunit of the renal sodium channel in the Liddle syndrome has provided important insight into the physiopathological understanding of mechanisms involved in this form of hereditary hypertension. Salt retention and secondary high blood pressure are the result of constitutive activation of the renal sodium channel by mutations in the gene encoding the renal sodium channel. It is speculated that less severe mutations in this channel could result in a less severe form of hypertension which may correspond to patients suffering from high blood pressure with low plasma renin activity. Several tools, most notably PCR, are derived from molecular research and are used in everyday practice, i.e. in prenatal diagnosis and in the diagnosis of several infectious diseases including tuberculosis and hepatitis. Finally, the production of recombinant proteins at lower cost and with fewer side effects is used in everyday clinical practice. Gene therapy remains an extraordinary challenge in correcting severe hereditary or acquired diseases. The use of genetically modified animal cell lines producing growth factors, insulin or erythropoetin, which are subsequently encapsulated and transferred to man, represents an attractive approach for gene therapy.
Mots-clé
Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, Gene Therapy, Genetic Engineering, Genetics, Medical, Humans, Hyperaldosteronism, Leptin, Molecular Biology, Obesity, Prenatal Diagnosis, Proteins, Sodium Channels
Pubmed
Web of science
Création de la notice
25/01/2008 14:48
Dernière modification de la notice
20/08/2019 17:26
Données d'usage