Key result
J343 mice bearing the KCNQ1 A340E mutation had significantly lower serum potassium (12.06 vs 14.44 mM, P=0.01) and higher serum sodium and chloride compared to wild-type mice.
The KCNQ1 A340E loss-of-function mutation disrupts electrolyte homeostasis in mice independently of the renin-angiotensin-aldosterone system.
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KCNQ1 loss-of-function may link to electrolyte wasting in mice; leaves open human relevance and requires clinical validation.
KCNQ1 (KvLQT1) is the pore-forming a-subunit of the potassium channel. To uncover its role in electrolyte metabolism, we investigated the effects of KCNQ1 A340E, a loss-of-function mutant, on J343 mice. Compared with the normal controls (C57BL/6J mice) bearing the wild-type KCNQ1 gene, J343 mice bearing KCNQ1 A340E demonstrated a much higher 24-h intake of electrolytes (potassium, sodium, and chloride). However, they suffered from significant electrolyte loss through both the feces and urine during a period of 24 h. Unbalance in electrolyte metabolism disrupted the electrolyte homeostasis in the J343 mice, which was characterized by the comparatively lower level of serum potassium (J343 vs C57BL/6J: 12.06 ± 1.47 vs 14.44 ± 3.58 mM, P = 0.01) and higher levels of serum sodium (J343 vs C57BL/6J: 148.05 ± 4.47 vs 115.15 ± 17.25 mM, P = 4.20 x 10(-4)) and chloride (J343 vs C57BL/6J: 118.0 ± 4.47 vs 85.21 ± 11.90 mM, P = 2.47 x 10(-5)). Between the J343 and C57BL/6J mice, there was no statistically significant difference in KCNQ1 expression in the gastrointestinal tract and kidney. Normal concentrations of plasma renin, angiotensin I, and aldosterone were also detected in both lines of mice. KCNQ1, therefore, is suggested to play a central role in electrolyte metabolism. KCNQ1 A340E, with the loss-of-function phenotype, may dysregulate electrolyte homeostasis in mice independently of the activity of the renin-angiotensin-aldosterone system.
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Pan et al. (2016) studied Electrolyte homeostasis. KCNQ1 A340E mutation vs. Wild-type KCNQ1 (C57BL/6J mice) was evaluated on Serum potassium level (mM) (p=0.01). J343 mice bearing the KCNQ1 A340E mutation had significantly lower serum potassium (12.06 vs 14.44 mM, P=0.01) and higher serum sodium and chloride compared to wild-type mice.
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