February 1, 1992View
Primary structure of the adult human skeletal muscle voltage‐dependent sodium channel
Population
Human skeletal muscle voltage-dependent sodium channel (hSkM1) cDNA
Design
Preclinical
Authors
Discussion
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Member takes
Implication
Provides SCN4A sequence for periodic paralysis mutation analysis; leaves open functional validation in disease models.
Key Points
- To determine the primary structure of the voltage-dependent sodium channel in adult human skeletal muscle and its implications for muscle disorders.
- Cloning of the SCN4A gene encoding the sodium channel.
- Nucleotide sequence determination of hSkM1 cDNA, comprising 7,823 nucleotides.
- Comparative analysis of hSkM1 with sodium channels from other species.
- hSkM1 encodes a protein of 1,836 amino acids with 92% identity to rat skeletal muscle sodium channel.
- Specific expression of hSkM1 RNA transcripts found exclusively in adult human skeletal muscle.
- Structural insights enhance understanding of mutations associated with conditions like hyperkalemic periodic paralysis.
Structured PICO
P
Population
Human skeletal muscle voltage-dependent sodium channel (hSkM1) cDNA
I
Intervention
Cloning and nucleotide sequence determination
O
Outcome
Nucleotide sequence and amino acid sequence determination
The cloning of the adult human skeletal muscle voltage-dependent sodium channel provides structural information to evaluate mutations in periodic paralyses.
Cite This Study
George et al. (1992) studied this question.