connexin 26 hearing loss gene (2) - PowerPoint PPT Presentation

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connexin 26 hearing loss gene (2)

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Some people without inborn hearing loss, connexin26(CX26) and connexin30(CX30) work together to form the cochlea's hybrid junction gaps.In this gene, which is to produce it is the largest genetic bilateral deafness and hearing impairment is called to DFNB1.for more details visit this link – PowerPoint PPT presentation

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Title: connexin 26 hearing loss gene (2)


1
connexin 26 genetic hearing loss
  • In some people, baby born deafness is found which
    are due to a gene, connexin 26.This affects the
    hearing loss one ear or both ear.Hearing loss can
    be stable or progressive and it further leads to
    damage.In this gene, which is to produce it is
    the largest genetic bilateral deafness and
    hearing impairment is called to DFNB1.

2
Mutation of connexin 26 gene
  • Mutations in the connexin 26 (Cx26) gene (GJB2)
    are connected with the type of deafness known as
    DFNB1.Many families are a face-off to have the
    mutations in the Cx26.Deafness is often a
    hereditary flaw that is caused by gjb2.

3
Therapy of connexin 26 gene
  • In some people without inborn hearing loss,
    connexin26 and connexin30 work together to form
    the cochlea's hybrid junction gaps.
  • Genetic loss of VGLUT3 in cochlear inner hair
    cells results in keen deafness.
  • Successful closer for the latter type of therapy
    was recently completed for a dominant-negative
    mutation of the GJB2 gene, which encodes the gap
    junction protein Connexin 26 (Cx26).

4
GJB2 gene other name
  • Connexin 26.
  • Mutant Gap Junction Protein Beta 2.
  • DFNA3.
  • DFNB1.
  • PPK.
  • HID.
  • KID.
  • CXB2_HUMAN.
  • Gap Junction Protein, Beta 2, 26 kDa (CX 26).

5
GJB2 treatment
  • Otologist-Otologists and otolaryngologists are
    both same but otologists are specialist in ear
    treatments.They solve problems in the inner ear,
    eardrums, and any physical disorder which affect
    hearing. They remove a tumor near the skull,
    behind the jaw.
  • Otolaryngologists-Otolaryngologists are the
    treatment condition of nose, ear, and throat.
    surgically and non surgically both are suitable
    but its depend on open patient's condition. In
    both surgery and non-surgery, doctors remove a
    tumor in the brain or skulls.

6
Other some treatment
  • 1. audiologists.
  • 2. speech-language pathologists.
  • 3. a clinical geneticist.
  • 4. a genetic counselo.
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