Patent ID: 8603814

Claim:
A method of determining a presence of a nonsense mutation in a protein of a patient, the method comprising: a. obtaining a cell sample from the patient, wherein said cell sample comprises cells expressing mRNA-containing premature stop codon; b. culturing said sample in the presence of an inhibitor of eIF5A to generate mRNA encoding said protein; c. extracting mRNA; d. obtaining complementary DNA (cDNA) from the mRNA encoding said protein; and e. analyzing the sequence of said cDNA, wherein said inhibitor is selected from the group consisting of: a. compound of formula (I): wherein R 1 is (C 1 -C 6 ) alkyl; R 2 is (C 1 -C 10 ) straight or branched alkyl, (C 3 -C 6 )cycloalkyl or phenoxy(C 1 -C 3 )alkyl, where the phenoxy group is substituted by substituted or unsubstituted phenoxy; and R 3 is hydrogen or a pharmacologically acceptable salt; b. a compound of formula (II): wherein R 1 is hydrogen or a pharmacologically acceptable salt; R 2 is ortho hydroxyl-substituted phenyl ot pyridyl, where the phenyl or pyridyl group is otherwise unsubstituted or substituted with 1 to 3 additional substituents selected from the group consisting of (C 1 -C 6 ) alkyl, phenyl, (C 1 -C 6 ), alkoxy, halogen, or hydroxyl; A-B is —CH 2 —CR 3 — or —CH═CH—; and R 3 is hydrogen or (C 1 -C 6 )alkyl; c) a compound of formula (III) or (IV); wherein R 1 , R 2 , R 3 , and R 4 each individually represent a hydrogen, an alkyl, alkenyl, or alkoxy group containing 1 to about 8 carbon atoms, an aryl, arylaklyl, or cycloalkyl group containing about 5 to 12 carbon atoms, or a peptide or peptidomimetic moiety containing 10 to about 30 carbon atoms.