In vitro method for identifying a clinical disorder associated w

Details In vitro method for identifying a clinical disorder associated w In vitro method for identifying a clinical disorder associated w

1996-09-18

1998-09-22

Ulm, John

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving antigen-antibody binding, specific binding protein...

435 4, 435 71, 435375, G01N 3353

Patent

active

058112448

ABSTRACT:
Disclosed is the identification of a mutation which is responsible for ataxia and epilepsy in a murine model system. More specifically, a mutation has been identified within the Nhe1 gene (also referred to as the Slc9a1 gene) which results in both ataxia and epilepsy. The specific mutation identified is an A to T transition at nucleotide 1639 which creates a premature stop codon. The identification of this mutation enables methods for the detection of clinical disorders associated with a defect in a cation exchanger (e.g., Nhe1).

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Morahan et al., Genetic and physiological association of diabetes susceptibility with raised Na+/H+ exchange activity. Proc. Natl. Acad. Sci. USA 91: 5898-5902 (1994).
Raley-Susman et al., Regulation of intracellular pH in cultured Hippocampal neurons by an Amiloride-insensitive Na+/H+ exchanger. J. of Biol. Chem. 256: 2733-2745 (1991).
Fliegel et al., Cloning and analysis of the human myocardial Na+/H+ exchanger. Mol. Cell. Biochem. 125 (2): 137-143 (1993).
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