Method to diagnose and treat pathological conditions resulting from deficient ion transport such as pseudohypoaldosteronism type-1
AssigneeYale University
InventorsRichard P. Lifton, Sue S. Chang, Bernard C. Rossier
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Abstract
The present invention is based, in part, on the identification of the roles of the human ATP-sensitive K+ channel, ENaC in causing pathological condition associated with abnormal ion transport, particularly PHA1. The present invention specifically provides the amino acid sequence of several human altered variants of the ENaC protein as well as the nucleotide sequence that encodes these variants that can be used in diagnosing ion transport disorders.
Claims6
A method for identifying a carrier of psuedohypoaldosteronism type-1 (PHA-1), comprising the steps of:
- a) isolating a nucleic acid sample from an individual;
- and
- b) analyzing the nucleic acid sample for the presence or absence of a nucleic acid comprising the nucleotide sequence of SEQ ID NO:
- 2, 4, or 6, whereby the presence of any one of the nucleotide sequences is indicative of a PHA-1 carrier.
A method for identifying a carrier of pseudohypoaldosteronism type-1 (PHA-1), comprising the steps of:
- a) isolating a nucleic acid sample from an individual;
- and
- b) analyzing the nucleic acid sample for the presence or absence of a homozygous alteration in the nucleotide sequence of SEQ ID NO:2, 4, or 6, whereby the presence of the homozygous alteration is indicative of a PHA-1 carrier.
Dependencies are inferred from the claim text.