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6 Cards in this Set
- Front
- Back
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What regulates expression of the CONNEXINS that make up gap junctions
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e.g. by steroid hormones
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mutations in the genes encoding different connexins are believed to underlie what diseases?
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1. CONGENITAL RECESSIVE NONSYNDROMIC DEAFNESS
and PROGRESSIVE DOMINANT DEAFNESS 2. CHARCOT MARIE TOOTH (CMT disease) |
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Connexin mutations can cause deafness because
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loss of connexin expression (and therefore gap junctions) results in changes in K+ distribution in the COCHLEA and therefore...
changes the Vrest of cochlear haircells |
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mutations in what gene may account for 10% of all congenital hearing loss
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connexin 26
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Charcot Marie Tooth (CMT) disease
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most common hereditary peripheral neuropathy (X linked form assoc. w/ Cx32)
characterized by diminished conduction of both MOTOR AND SENSORY axons mutation results in the loss of gap junctions between overlaying intracellular loops of schwann cells resulting in demyelination mainly in paranodal regions |
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loss of gap junctions between overlaying loops of Schwann cells underlies what disease?
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Charcot Marie Tooth disease
characterized by diminished conduction of both: MOTOR and SENSORY axons |
