LES DIFFÉRENTS TYPES DE MUTATIONS - KJER France
modifications des lettres de la phrase entrainent des modifications du sens Il existe plusieurs types de mutations Les mutations par substitution La substitution est une forme de mutation Dans cette mutation, l’anomalie est provoquée par le remplacement d’un nucléotide par un autre ou, dans notre exemple, d’une lettre par une autre 1
Types of mutations Mutations: Mutations: protein level mutations
Mutations: Protein Level • 4 groups of amino acids • silent mutation • Missense mutation & examples • neutral • non-functional • nonsense mutation • anti-nonsense • Frameshift mutation
MUTATIONS - Neda Bogari
Mutations can be considered in two main classes according to how they are transmitted from generation to another Fixed/Stable mutations: mutation which is transmitted unchanged (unaltered) Dynamic Or Unstable Mutations: This is new class of mutation which undergo alteration as they are transmitted in families TYPES OF MUTATIONS
LES MUTATIONS
De telles mutations ont généralement lieu dans l’une des deux premières bases du codon Ce type de mutation peut provoquer une maladie si la fonction de la protéine est altérée 2- Mutation « non-sens » (stop) : ce sont des mutations ponctuelles qui changent le codon d’un acide aminé en un codon stop
CFTR MUTATION CLASSES Normal Class I Class II Class III Class
Certain types of CFTR mutations are associated with different disease complications For example, some mutations are more likely to affect the pancreas than others However, this correlation is not perfect, and knowing an individual’s CFTR mutations cannot always tell you how severe that person’s CF symptoms will be
1 SP act C3 1 mutations - LeWebPédagogique
différents types de mutations ponctuelles Séquences de nucléotides du β de l’hémoglobine et de 3 dans l’apparition de thalassémies (tha1, tha5, judicieusement (type de comparaison choisi pertinent) ; séquence normale prise comme référence Schémas titrés et légendés des trois types de mutations ponctuelles Avec séquence
Somatic Mutation, Genomic V ariation, and Neurological Disease
mutations that cause cancer arise somatically , and we ar e becoming incr easingly awar e of mutations that cause other diseases and that arise de novo, meaning they ar e undetectable in the par ents Some such de novo mutations arise in the gamete of a peantr, but some arise after fertilization during
DOCK8 Immunodeficiency Syndrome
mutations are large deletions, but point mutations also are common (see the Glossary for more information about these mutation types) The DOCK8 mutations that cause the disease are present in every cell of the body For some people with DOCK8 immunodeficiency syndrome, additional DOCK8 mutations develop in immune cells as the body attempts to
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CFTR MUTATION CLASSES
Class II Class III Class IV Class VClass INormal
DESCRIPTION
No functional
CFTR is created.CFTR protein
is created, but misfolds, keeping it from moving to the cell surface.CFTR protein is created and moves to the cell surface, but the channel gate does not open properly.CFTR protein is created and moves to the cell surface, but the function of the channel is faulty.Normal CFTR protein is created and moves to the cell surface, but in insufficient quantities.CFTR protein is created, moves to the cell surface and allows transfer of chloride and water.Misfolded
proteinChannel gate does not openFaulty channelNot enoughCFTRWHAT'S HAPPENING IN THE CELLRNARibosomeNewly
foldedCFTRMature
CFTR channelAirway
surfaceMUTATION
EXAMPLES
G542XW1282X
R553X aka production mutations," which include nonsense mutations, some splice mutations and deletions G551D S549N aka gating mutations"Correctors such
as lumacaftor or tezacaftor help defective CFTR fold correctlyPotentiators such as ivacaftor help open the CFTR channel, and also help increase the function of normal CFTRRead-through compounds may allow production of full-length CFTR for nonsense mutationsPOTENTIAL
THERAPIESCell
nucleus DNACl-Cl-Cl-
22%88%6%6%5%
% of people with CF who have at least one mutation in that class No mutationF508delN1303K
I507del
aka processing mutations"D1152H
R347P R117H aka conduction mutations"9/7/2017
3849+10kbCT
2789+5G
A A455E includes some splice mutationsShortened
proteinPotential therapies
for CFTR mutationsPotentiators are drugs that
help open the CFTR channel at the cell surface and increase chloride transport.Correctors are drugs that help the
defective CFTR protein fold properly so that it can move to the cell surface.RNA therapies aim to either fix the
incorrect instructions in defective RNA, or provide normal RNA directly to the cell.Gene-editing techniques aim to
repair the underlying genetic defect in the CF gene DNA. Gene replacement techniques aim to provide a correct copy of the CFTR gene.Read-through compounds aim to allow full-length CFTR protein to be made, even when the RNA contains a mutation telling the ribosome to stop. Cl- Cl-Cl-Cl-
Cl-DNARNANewly
folded CFTRRibosomeMature
CFTRFunctional
CFTR channelAirway surface Cell nucleusKNOW YOUR MUTATIONS:
Cystic fibrosis is caused by mutations, or changes, in the CFTR gene. This gene provides the code that tells the body how to make the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The protein controls the salt and water balance in the lungs and other tissues. All people have two copies of the CFTR gene, and there must be mutations in both copies to cause CF. More than 1,700 mutations of the CFTR gene have been identified. Although some are common, others are rare and found in only a few people. CFTR mutations are grouped into classes based on the way the mutations affect the CFTR protein. The reverse side of this sheet shows the most common CFTR mutation classes. In the future, mutations may also be classified by theratype," meaning which type of CFTR modulator therapy they respondto best. This is because mutations within the same class may respond to therapies differently, and not every mutation can be neatly assigned to one mutation class.
Certain types of CFTR mutations are associated with different disease complications. For example, some mutations are more likely to affect the pancreas than others. However, this correlation is not perfect, and knowing an individual"s CFTR mutations cannot always tell you how severe that person"s CF symptoms will be. Although the potential therapies described on this sheet can be very effective for some people with CF, others may not experience the exact same benefit. Researchers continue to work in the lab and in clinical trials to find the best therapeutic approaches to target specific CFTR mutations or classes of mutations to improve the health of all individuals living with CF.