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#3603. GJB1 mutations c.212T>G and c.311A>C induce apoptosis and inwardly rectifying potassium current changes in X-linked Charcot-Marie-Tooth type 1

October 2026	publication date
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4 total number of authors per manuscript	0 $

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Journal’s subject area:

Biology Medicine

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Abstract:
Gap junction beta 1 (GJB1) is the pathogenic gene of X-linked Charcot-Marie-Tooth type 1 (CMTX1), a rare hereditary sensorimotor neuropathy. We previously reported two GJB1 missense mutations: one novel mutation found in a CMTX1 family that only manifested as peripheral neuropathy, and another previously reported mutation GJB1 leading to involvement of the peripheral nerves and cerebral white matter. Here, we generated Schwann cells and primary cultured oligodendrocytes with these two mutations, resulting in the Cx32I71S and Cx32K104T mutants, to analyze the pathogenic mechanism using cytology, molecular biology, and electrophysiological methods. Whole-cell patch clamp experiments in oligodendrocytes revealed that the Cx32K104T mutant reduced the cell membrane potential and inwardly rectifying potassium currents, which may be a vital element for central involvement.
Keywords:
Connexin 32; Gap junction beta 1 gene; Inwardly rectifying potassium; X-linked charcot-marie-tooth type 1

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