New treatments targeting the basic defects in cystic fibrosis.
Identifieur interne : 000730 ( Main/Exploration ); précédent : 000729; suivant : 000731New treatments targeting the basic defects in cystic fibrosis.
Auteurs : Isabelle Fajac [France] ; Claire E. Wainwright [Australie]Source :
- Presse medicale (Paris, France : 1983) [ 2213-0276 ] ; 2017.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Agonistes de canaux chlorure (usage thérapeutique), Aminophénols (usage thérapeutique), Analyse de mutations d'ADN, Collaboration intersectorielle, Communication interdisciplinaire, Enfant, Enfant d'âge préscolaire, Espérance de vie, Humains, Insuffisance pancréatique exocrine (), Insuffisance pancréatique exocrine (diagnostic), Insuffisance pancréatique exocrine (génétique), Insuffisance pancréatique exocrine (mortalité), Jeune adulte, Mucoviscidose (), Mucoviscidose (diagnostic), Mucoviscidose (génétique), Mucoviscidose (mortalité), Nourrisson, Nouveau-né, Phénotype, Pronostic, Protéine CFTR (), Protéine CFTR (génétique), Quinolinone (usage thérapeutique), Thérapie génétique ().
- MESH :
- diagnostic : Insuffisance pancréatique exocrine, Mucoviscidose.
- génétique : Insuffisance pancréatique exocrine, Mucoviscidose, Protéine CFTR.
- mortalité : Insuffisance pancréatique exocrine, Mucoviscidose.
- usage thérapeutique : Agonistes de canaux chlorure, Aminophénols, Quinolinone.
- Adolescent, Adulte, Analyse de mutations d'ADN, Collaboration intersectorielle, Communication interdisciplinaire, Enfant, Enfant d'âge préscolaire, Espérance de vie, Humains, Insuffisance pancréatique exocrine, Jeune adulte, Mucoviscidose, Nourrisson, Nouveau-né, Phénotype, Pronostic, Protéine CFTR, Thérapie génétique.
English descriptors
- KwdEn :
- Adolescent, Adult, Aminophenols (therapeutic use), Child, Child, Preschool, Chloride Channel Agonists (therapeutic use), Cystic Fibrosis (diagnosis), Cystic Fibrosis (genetics), Cystic Fibrosis (mortality), Cystic Fibrosis (therapy), Cystic Fibrosis Transmembrane Conductance Regulator (drug effects), Cystic Fibrosis Transmembrane Conductance Regulator (genetics), DNA Mutational Analysis, Exocrine Pancreatic Insufficiency (diagnosis), Exocrine Pancreatic Insufficiency (genetics), Exocrine Pancreatic Insufficiency (mortality), Exocrine Pancreatic Insufficiency (therapy), Genetic Therapy (methods), Humans, Infant, Infant, Newborn, Interdisciplinary Communication, Intersectoral Collaboration, Life Expectancy, Phenotype, Prognosis, Quinolones (therapeutic use), Young Adult.
- MESH :
- chemical , drug effects : Cystic Fibrosis Transmembrane Conductance Regulator.
- chemical , genetics : Cystic Fibrosis Transmembrane Conductance Regulator.
- chemical , therapeutic use : Aminophenols, Chloride Channel Agonists, Quinolones.
- diagnosis : Cystic Fibrosis, Exocrine Pancreatic Insufficiency.
- genetics : Cystic Fibrosis, Exocrine Pancreatic Insufficiency.
- methods : Genetic Therapy.
- mortality : Cystic Fibrosis, Exocrine Pancreatic Insufficiency.
- therapy : Cystic Fibrosis, Exocrine Pancreatic Insufficiency.
- Adolescent, Adult, Child, Child, Preschool, DNA Mutational Analysis, Humans, Infant, Infant, Newborn, Interdisciplinary Communication, Intersectoral Collaboration, Life Expectancy, Phenotype, Prognosis, Young Adult.
Abstract
Cystic fibrosis (CF) is a monogenic autosomal recessive disorder affecting around 75,000 individuals worldwide. It is a multi-system disease but the main morbidity and mortality is caused by chronic lung disease. Due to newborn screening, a multidisciplinary approach to care and intensive symptomatic treatment, the prognosis has dramatically improved over the last decades and there are currently more adults than children in many countries. However, CF is still a very severe disease with a current median age of life expectancy in the fourth decade of life. The disease is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene which encodes the CFTR protein, a protein kinase A-activated ATP-gated anion channel that regulates the transport of electrolytes such as chloride and bicarbonate. More than 2000 mutations have been reported, although not all of these have functional consequences. An enormous research effort and progress has been made in understanding the consequences of these mutations on the CFTR protein structure and function, and this has led to the approval of two new drug therapies that are able to bind to defective CFTR proteins and partially restore their function. They are mutation-specific therapies and available at present for specific mutations only. They are the first personalized medicine for CF with a possible disease-modifying effect. A pipeline of other compounds is under development with different mechanisms of action. It is foreseeable that new combinations of compounds will further improve the correction of CFTR function. Other strategies including premature stop codon read-through drugs, antisense oligonucleotides that correct the basic defect at the mRNA level or gene editing to restore the defective gene as well as gene therapy approaches are all in the pipeline. All these strategies are needed to develop disease-modifying therapies for all patients with CF.
DOI: 10.1016/j.lpm.2017.01.024
PubMed: 28554723
Affiliations:
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Le document en format XML
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Wainwright</name><affiliation wicri:level="1"><nlm:affiliation>University of Queensland, St Lucia Queensland 4072,Brisbane, Australia; Lady Cilento Children's Hospital, 501 Stanley St, 4101 Brisbane, QLD, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>University of Queensland, St Lucia Queensland 4072,Brisbane, Australia; Lady Cilento Children's Hospital, 501 Stanley St, 4101 Brisbane, QLD</wicri:regionArea><wicri:noRegion>QLD</wicri:noRegion></affiliation></author></analytic><series><title level="j">Presse medicale (Paris, France : 1983)</title><idno type="eISSN">2213-0276</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aminophenols (therapeutic use)</term><term>Child</term><term>Child, Preschool</term><term>Chloride Channel Agonists (therapeutic use)</term><term>Cystic Fibrosis (diagnosis)</term><term>Cystic Fibrosis (genetics)</term><term>Cystic Fibrosis (mortality)</term><term>Cystic Fibrosis (therapy)</term><term>Cystic Fibrosis Transmembrane Conductance Regulator (drug effects)</term><term>Cystic Fibrosis Transmembrane Conductance Regulator (genetics)</term><term>DNA Mutational Analysis</term><term>Exocrine Pancreatic Insufficiency (diagnosis)</term><term>Exocrine Pancreatic Insufficiency (genetics)</term><term>Exocrine Pancreatic Insufficiency (mortality)</term><term>Exocrine Pancreatic Insufficiency (therapy)</term><term>Genetic Therapy (methods)</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Interdisciplinary Communication</term><term>Intersectoral Collaboration</term><term>Life Expectancy</term><term>Phenotype</term><term>Prognosis</term><term>Quinolones (therapeutic use)</term><term>Young Adult</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Agonistes de canaux chlorure (usage thérapeutique)</term><term>Aminophénols (usage thérapeutique)</term><term>Analyse de mutations d'ADN</term><term>Collaboration intersectorielle</term><term>Communication interdisciplinaire</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Espérance de vie</term><term>Humains</term><term>Insuffisance pancréatique exocrine ()</term><term>Insuffisance pancréatique exocrine (diagnostic)</term><term>Insuffisance pancréatique exocrine (génétique)</term><term>Insuffisance pancréatique exocrine (mortalité)</term><term>Jeune adulte</term><term>Mucoviscidose ()</term><term>Mucoviscidose (diagnostic)</term><term>Mucoviscidose (génétique)</term><term>Mucoviscidose (mortalité)</term><term>Nourrisson</term><term>Nouveau-né</term><term>Phénotype</term><term>Pronostic</term><term>Protéine CFTR ()</term><term>Protéine CFTR (génétique)</term><term>Quinolinone (usage thérapeutique)</term><term>Thérapie génétique ()</term></keywords><keywords scheme="MESH" type="chemical" qualifier="drug effects" xml:lang="en"><term>Cystic Fibrosis Transmembrane Conductance Regulator</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cystic Fibrosis Transmembrane Conductance Regulator</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Aminophenols</term><term>Chloride Channel Agonists</term><term>Quinolones</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Cystic Fibrosis</term><term>Exocrine Pancreatic Insufficiency</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Insuffisance pancréatique exocrine</term><term>Mucoviscidose</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cystic Fibrosis</term><term>Exocrine Pancreatic Insufficiency</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Insuffisance pancréatique exocrine</term><term>Mucoviscidose</term><term>Protéine CFTR</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Genetic Therapy</term></keywords><keywords scheme="MESH" qualifier="mortality" xml:lang="en"><term>Cystic Fibrosis</term><term>Exocrine Pancreatic Insufficiency</term></keywords><keywords scheme="MESH" qualifier="mortalité" xml:lang="fr"><term>Insuffisance pancréatique exocrine</term><term>Mucoviscidose</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Cystic Fibrosis</term><term>Exocrine Pancreatic Insufficiency</term></keywords><keywords scheme="MESH" qualifier="usage thérapeutique" xml:lang="fr"><term>Agonistes de canaux chlorure</term><term>Aminophénols</term><term>Quinolinone</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Child, Preschool</term><term>DNA Mutational Analysis</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Interdisciplinary Communication</term><term>Intersectoral Collaboration</term><term>Life Expectancy</term><term>Phenotype</term><term>Prognosis</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Analyse de mutations d'ADN</term><term>Collaboration intersectorielle</term><term>Communication interdisciplinaire</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Espérance de vie</term><term>Humains</term><term>Insuffisance pancréatique exocrine</term><term>Jeune adulte</term><term>Mucoviscidose</term><term>Nourrisson</term><term>Nouveau-né</term><term>Phénotype</term><term>Pronostic</term><term>Protéine CFTR</term><term>Thérapie génétique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Cystic fibrosis (CF) is a monogenic autosomal recessive disorder affecting around 75,000 individuals worldwide. It is a multi-system disease but the main morbidity and mortality is caused by chronic lung disease. Due to newborn screening, a multidisciplinary approach to care and intensive symptomatic treatment, the prognosis has dramatically improved over the last decades and there are currently more adults than children in many countries. However, CF is still a very severe disease with a current median age of life expectancy in the fourth decade of life. The disease is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene which encodes the CFTR protein, a protein kinase A-activated ATP-gated anion channel that regulates the transport of electrolytes such as chloride and bicarbonate. More than 2000 mutations have been reported, although not all of these have functional consequences. An enormous research effort and progress has been made in understanding the consequences of these mutations on the CFTR protein structure and function, and this has led to the approval of two new drug therapies that are able to bind to defective CFTR proteins and partially restore their function. They are mutation-specific therapies and available at present for specific mutations only. They are the first personalized medicine for CF with a possible disease-modifying effect. A pipeline of other compounds is under development with different mechanisms of action. It is foreseeable that new combinations of compounds will further improve the correction of CFTR function. Other strategies including premature stop codon read-through drugs, antisense oligonucleotides that correct the basic defect at the mRNA level or gene editing to restore the defective gene as well as gene therapy approaches are all in the pipeline. All these strategies are needed to develop disease-modifying therapies for all patients with CF.</div></front></TEI><affiliations><list><country><li>Australie</li><li>France</li></country><region><li>Île-de-France</li></region><settlement><li>Paris</li></settlement><orgName><li>Université Paris-Descartes</li></orgName></list><tree><country name="France"><region name="Île-de-France"><name sortKey="Fajac, Isabelle" sort="Fajac, Isabelle" uniqKey="Fajac I" first="Isabelle" last="Fajac">Isabelle Fajac</name></region></country><country name="Australie"><noRegion><name sortKey="Wainwright, Claire E" sort="Wainwright, Claire E" uniqKey="Wainwright C" first="Claire E" last="Wainwright">Claire E. Wainwright</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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