Nucleotide sequence of the na+/h+ exchanger-8 in patients with congenital sodium diarrhea.

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Nucleotide sequence of the na+/h+ exchanger-8 in patients with congenital sodium diarrhea. / Baum, M; Martin, MG; Booth, Ian; Holmberg, C; Twombley, K; Zhang, Q; Gattineni, J; Moe, O.

In: Journal of Pediatric Gastroenterology and Nutrition, Vol. 53, No. 5, 01.11.2011, p. 474-7.

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Baum, M ; Martin, MG ; Booth, Ian ; Holmberg, C ; Twombley, K ; Zhang, Q ; Gattineni, J ; Moe, O. / Nucleotide sequence of the na+/h+ exchanger-8 in patients with congenital sodium diarrhea. In: Journal of Pediatric Gastroenterology and Nutrition. 2011 ; Vol. 53, No. 5. pp. 474-7.

Bibtex

@article{b9cf02ae9c9f4adaa9378f6d80700027,
title = "Nucleotide sequence of the na+/h+ exchanger-8 in patients with congenital sodium diarrhea.",
abstract = "ABSTRACT: Sodium absorption by the intestine is mediated by brush border Na/H exchangers, which include the NHE3 and NHE8 isoforms. We demonstrated a maturational decrease in NHE8 and increase in NHE3 in mouse intestine mRNA abundance and brush border membrane protein abundance, indicating a developmental switch of isoforms. Congenital sodium diarrhea is a rare autosomal recessive disorder characterized by polyhydramnios, hyponatremia, metabolic acidosis, and diarrhea with a high sodium content. Previous studies using intestinal brush border membrane vesicles from patients with this disorder have demonstrated a decrease in Na/H exchanger activity. Because some patients with congenital sodium diarrhea improve with age and knowing the developmental switch from NHE8 to NHE3, NHE8 may be a candidate gene for this disorder. We sequenced NHE8 from 5 patients with this disorder and found no disease-causing homozygous mutations. Although brush border membrane Na/H exchange activity may be decreased, exonic mutations in NHE8 cannot account for this disorder in these subjects.",
author = "M Baum and MG Martin and Ian Booth and C Holmberg and K Twombley and Q Zhang and J Gattineni and O Moe",
year = "2011",
month = nov,
day = "1",
doi = "10.1097/MPG.0b013e318227ad6e",
language = "English",
volume = "53",
pages = "474--7",
journal = "Journal of Pediatric Gastroenterology and Nutrition",
issn = "0277-2116",
publisher = "Lippincott Williams and Wilkins",
number = "5",

}

RIS

TY - JOUR

T1 - Nucleotide sequence of the na+/h+ exchanger-8 in patients with congenital sodium diarrhea.

AU - Baum, M

AU - Martin, MG

AU - Booth, Ian

AU - Holmberg, C

AU - Twombley, K

AU - Zhang, Q

AU - Gattineni, J

AU - Moe, O

PY - 2011/11/1

Y1 - 2011/11/1

N2 - ABSTRACT: Sodium absorption by the intestine is mediated by brush border Na/H exchangers, which include the NHE3 and NHE8 isoforms. We demonstrated a maturational decrease in NHE8 and increase in NHE3 in mouse intestine mRNA abundance and brush border membrane protein abundance, indicating a developmental switch of isoforms. Congenital sodium diarrhea is a rare autosomal recessive disorder characterized by polyhydramnios, hyponatremia, metabolic acidosis, and diarrhea with a high sodium content. Previous studies using intestinal brush border membrane vesicles from patients with this disorder have demonstrated a decrease in Na/H exchanger activity. Because some patients with congenital sodium diarrhea improve with age and knowing the developmental switch from NHE8 to NHE3, NHE8 may be a candidate gene for this disorder. We sequenced NHE8 from 5 patients with this disorder and found no disease-causing homozygous mutations. Although brush border membrane Na/H exchange activity may be decreased, exonic mutations in NHE8 cannot account for this disorder in these subjects.

AB - ABSTRACT: Sodium absorption by the intestine is mediated by brush border Na/H exchangers, which include the NHE3 and NHE8 isoforms. We demonstrated a maturational decrease in NHE8 and increase in NHE3 in mouse intestine mRNA abundance and brush border membrane protein abundance, indicating a developmental switch of isoforms. Congenital sodium diarrhea is a rare autosomal recessive disorder characterized by polyhydramnios, hyponatremia, metabolic acidosis, and diarrhea with a high sodium content. Previous studies using intestinal brush border membrane vesicles from patients with this disorder have demonstrated a decrease in Na/H exchanger activity. Because some patients with congenital sodium diarrhea improve with age and knowing the developmental switch from NHE8 to NHE3, NHE8 may be a candidate gene for this disorder. We sequenced NHE8 from 5 patients with this disorder and found no disease-causing homozygous mutations. Although brush border membrane Na/H exchange activity may be decreased, exonic mutations in NHE8 cannot account for this disorder in these subjects.

U2 - 10.1097/MPG.0b013e318227ad6e

DO - 10.1097/MPG.0b013e318227ad6e

M3 - Article

C2 - 21666503

VL - 53

SP - 474

EP - 477

JO - Journal of Pediatric Gastroenterology and Nutrition

JF - Journal of Pediatric Gastroenterology and Nutrition

SN - 0277-2116

IS - 5

ER -