Premium
Mutant GTP cyclohydrolase I mRNA levels contribute to dopa‐responsive dystonia onset
Author(s) -
Hirano Makito,
Tamaru Yoshiko,
Ito Hidefumi,
Matsumoto Sadayuki,
Imai Terukuni,
Ueno Satoshi
Publication year - 1996
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410400517
Subject(s) - gtp cyclohydrolase i , missense mutation , mutant , dystonia , messenger rna , biology , mutation , gtp' , genetics , gene , microbiology and biotechnology , endocrinology , biochemistry , neuroscience , enzyme , tetrahydrobiopterin , nitric oxide synthase , nitric oxide
We present a new Japanese family with hereditary progressive dystonia with marked diurnal fluctuation/doparesponsive dystonia. The affected daughter and her asymptomatic father are heterozygous for a novel missense mutation that replaces His by Pro at codon 144 in the GTP cyclohydrolase I gene. Quantitative reverse transcription‐polymerase chain reaction revealed a higher ratio of mutant/normal mRNA encoding GTP cyclohydrolase I in the patient. These results demonstrate the importance of mutant mRNA levels for phenotypic variability among cases with the same mutation.