Pathogenesis of sudden unexplained nocturnal death (lai tai) and endemic distal renal tubular acidosis

Nimmannit, S; Malasit, Prida; Vasuvattakul, Somkiat; Nilwarangkur, S; Chaovakul, Vipada; Susaengrat, Wattanachai

doi:10.1016/0140-6736(91)91786-t

Cited by 55 publications

(39 citation statements)

References 17 publications

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“…Indeed, in Southeast Asian AE1-associated dRTA, including G701D, severe hypokalemia is more severe than European AE1-associated dRTA (5). G701D has a gene frequency of 0.7% in Northeastern Thailand (38), where dRTA is endemic (26), and hypokalemia with hypokalemic paralysis and sudden unexplained nocturnal death are common (25,27,28). However, whether the red cell abnormalities seen in the Southeast Asian AE1 mutations are associated with cation leak activity or whether hypokalemic disease in Northeastern Thailand is linked to G701D heterozygosity are questions that need addressing in future studies.…”

Section: Discussionmentioning

confidence: 99%

Cation transport activity of anion exchanger 1 mutations found in inherited distal renal tubular acidosis

Walsh

Borgèse²,

Gabillat³

et al. 2008

American Journal of Physiology-Renal Physiology

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(AE1) is encoded by SLC4A1 and mediates electroneutral anion exchange across cell membranes. It is the most abundant protein in the red cell membrane, but it is also found in the basolateral membrane of renal ␣-intercalated cells, where it is required for normal urinary acidification. Recently, four point mutations in red cell AE1 have been described that convert the anion exchanger to a cation conductance. SLC4A1 mutations can also cause type 1 hypokalemic distal renal tubular acidosis (dRTA). We investigated the properties of four dRTA-associated AE1 mutations (R589H, G609R, S613F, and G701D) by heterologous expression in Xenopus laevis oocytes. Although these AE1 mutants are functional anion exchangers, unlike the red cell disease mutants, we found that they also demonstrated a cation leak. We found a large cation leak in the G701D mutant. This mutant normally requires coexpression with glycophorin A for surface membrane expression in red blood cells and oocytes. However, we found that coexpressing wild-type kidney AE1 with G701D in oocytes still caused a cation leak, consistent with heterodimerized G701D reaching the cell membrane and retaining its cation conductance property. These findings have potential structural and functional implications for AE1, and they indicate that while anion exchange and cation conductance properties are distinct, they can coexist. band 3; Southeast Asia; cation conductance; potassium; oocyte; acidosis; and kidney ANION EXCHANGER 1 (AE1) is a multiple membrane-spanning protein that mediates electroneutral Cl Ϫ -HCO 3 Ϫ exchange across the cell membrane (32). In the red blood cell, AE1 has an NH 2 -terminal cytoplasmic domain that acts as an anchorage site for the cell membrane cytoskeleton and a membraneassociated domain (predicted to span the membrane 12-14 times) that carries out anion exchange (9, 18). A kidney isoform of AE1 (kAE1) is present in the ␣-intercalated cell (␣-IC) of the distal nephron. It differs from the erythroid form (eAE1) in lacking the 65 NH 2 -terminal amino acids and is located in the basolateral membrane of the ␣-IC, where it plays a key role in normal urinary acidification linked to apical membrane electrogenic proton (H ϩ

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Section: Discussionmentioning

confidence: 99%

Cation transport activity of anion exchanger 1 mutations found in inherited distal renal tubular acidosis

Walsh

Borgèse²,

Gabillat³

et al. 2008

American Journal of Physiology-Renal Physiology

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show abstract

“…Based on Thai ministry of Public Health report in 1990 there was an association between a large meal of glutinous ("sticky") rice or carbohydrates ingested on the night of death in Brugada syndrome victims [9]. This report motivated many investigators to approve that association.…”

Section: Brugada Syndrome and Carbohydrate Metabolismmentioning

confidence: 99%

Brugada Syndrome and Carbohydrate Metabolism

Chanavirut¹,

Leelayuwat²

2017

JCCR

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“…71 Serum potassium levels in the northeastern population are significantly lower than those of the population in Bangkok, which lies in the central part of Thailand where potassium is abundant in food. Hypokalemia is a well-known predisposing factor to ventricular arrhythmias.…”

Section: Hypokalemiamentioning

confidence: 99%