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  • CFTR Gene: Aileen Concepcion M. Agustin

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    The CFTR gene encodes the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which regulates the movement of chloride ions across epithelial cell membranes. Mutations in the CFTR gene disrupt the normal function of the CFTR protein, resulting in cystic fibrosis. The most common mutation is a deletion of phenylalanine at position 508 (ΔF508), which causes the CFTR protein to fold incorrectly and not traffic to the cell surface. Disrupted CFTR function leads to thick mucus accumulation and chronic lung infections that are characteristic of cystic fibrosis. Current treatments focus on developing CFTR correctors and potentiators to target the underlying genetic defect.

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    Cftr Gene Final

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    The CFTR gene encodes the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which regulates the movement of chloride ions across epithelial cell membranes. Mutations in the CFTR gene disrupt the normal function of the CFTR protein, resulting in cystic fibrosis. The most common mutation is a deletion of phenylalanine at position 508 (ΔF508), which causes the CFTR protein to fold incorrectly and not traffic to the cell surface. Disrupted CFTR function leads to thick mucus accumulation and chronic lung infections that are characteristic of cystic fibrosis. Current treatments focus on developing CFTR correctors and potentiators to target the underlying genetic defect.

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    26 views20 pages

    CFTR Gene: Aileen Concepcion M. Agustin

    Uploaded by

    aileen agustin
    The CFTR gene encodes the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which regulates the movement of chloride ions across epithelial cell membranes. Mutations in the CFTR gene disrupt the normal function of the CFTR protein, resulting in cystic fibrosis. The most common mutation is a deletion of phenylalanine at position 508 (ΔF508), which causes the CFTR protein to fold incorrectly and not traffic to the cell surface. Disrupted CFTR function leads to thick mucus accumulation and chronic lung infections that are characteristic of cystic fibrosis. Current treatments focus on developing CFTR correctors and potentiators to target the underlying genetic defect.

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    CFTR GENE

    Aileen Concepcion M. Agustin

    NAME
    Cystic fibrosis transmembrane

    conductance regulator or CFTR gene


    Belongs to family of genes:
    ABC (ATP-binding cassette

    transporters)
    ATP (ATPases)
    Other names:
    ABC35; ABCC7; cAMP-dependent Cl-

    channel; CF, CFTR_HUMAN; CFTR, ATPbinding cassette (sub-family C,


    member 7); CFTR (ATP-binding
    cassette sub-family C, member 7),
    MRP7

    STRUCTURE
    Composed of 1480 amino acids
    Regulatory (r) domain also controls
    channel activity
    NBD1 and NBD2 interact with
    nucleotides to regulate channel
    activityopening and closing of the
    MSDs
    MSD1 and MSD2 each composed of
    6 transmembrane segments, form
    the CFTR channel pore
    Requires phosphorylation of
    regulatory domain
    Binding and hydrolysis of ATP

    LOCATION
    Cytogenetic Location: 7q31.2
    Molecular Location on chromosome 7:
    base pairs 117,478,340 to 117,668,665

    CFTR PROTEIN

    Synthesis
    In the nucleus, theCFTRgene is transcribed into

    mRNA
    Intronsare then removed from mRNA in a process

    calledsplicing
    The CFTR protein is synthesized in the cytoplasm

    and enters the endoplasmic reticulum (ER) during


    synthesis
    Folding and processing
    Immature CFTR protein is folded and processed in

    the ER
    Any protein that does not fold properly is degraded

    Trafficking
    Mature CFTR protein is transported to the Golgi

    apparatus for final processing and the mature


    protein is then trafficked to the cell surface
    Turnover
    CFTR channels have a limited lifespan and are

    eventually removed in a process called turnover

    NORMAL FUNCTION
    Encodes CFTR protein
    important role in
    maintaining electrolytes
    and fluid balance
    transports negatively
    charged particles called
    chloride ions
    regulates function of other
    channels, sodium and
    bicarbonate ions

    EFFECTS OF
    NORMAL
    PHYSIOLOGY

    MUTATIONS
    1.

    Premature stop codon


    mutations

    2.

    Folding/Trafficking defect
    Delta F508 deletion (most common)

    3.

    Gating defect

    4.

    Narrow channel mutation

    5.

    Decreased stability

    6.

    Splicing defect

    PREMATURE STOP CODON


    MUTATIONS

    FOLDING/ TRAFFICKING
    DEFECT

    GATING DEFECT

    NARROW CHANNEL
    MUTATION

    SPLICING DEFECT

    DECREASED STABILITY

    PHYSIOLOGIC EFFECTS

    PHYSIOLOGIC EFFECTS

    CF MORBIDITY:
    PHENOTYPIC
    EXPRESSION OF
    CF INVOLVES
    MULTIPLE
    ORGANS

    INVESTIGATION
    3 major types
    1.
    2.
    3.

    Suppressors of premature stop


    codons
    CFTR correctors
    CFTR potentiators

    REFERENCES
    CFTR gene. (2016, March 28). Retrieved March 28,

    2016, from https://ghr.nlm.nih.gov/gene/CFTR


    Cystic Fibrosis. (2009). Retrieved March 28, 2016,

    from
    http://helicase.pbworks.com/w/page/17605612/Cysti
    c Fibrosis
    Science Buddies Staff. (2014, October 27).From

    Genes to Genetic Diseases: What Kinds of Mutations


    Matter?.Retrieved March 30, 2016 from
    http://www.sciencebuddies.org/science-fairprojects/project_ideas/BioMed_p007.shtml?
    from=Blog
    The CFTR mutations database The CFTR gene. (n.d.).

    Retrieved March 28, 2016, from


    http://www.umd.be/CFTR/W_CFTR/gene.html
    Understanding normal CFTR protein and activity.

    (2015). Retrieved March 28, 2016, from


    http://www.cftrscience.com/?q=normal-CFTR-protein
    F508. (2015, February 27). Retrieved March 28,

    2016, from https://en.wikipedia.org/wiki/F508

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