Mechanism of peripheral nerve dysfunction:Connexin 32 promoter P2 mutations

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Abstract from Ann Neurol. 2004 Oct 6

Connexin 32 promoter P2 mutations: A mechanism of peripheral nerve

dysfunction.

Houlden H, Girard M, Cockerell C, Ingram D, Wood NW, Goossens M,

RW, Reilly MM.

Department of Molecular Neurosciences, Institute of Neurology, Queen

Square.

We identified a large Charcot-Marie-Tooth disease family with a novel

mutation in the Connexin 32 (Cx32) P2 promoter region at position

-526bp. This mutation was in a highly conserved SOX10 binding site.

Functional studies were conducted on the Cx32 promoter that showed that

this mutation reduced the activity of the Cx32 promoter and the affinity

for SOX10 binding. These data suggest that interaction between the Cx32

P2 promoter, SOX10, and EGR2 highlight a mechanism of peripheral nerve

dysfunction.