PubMed · 9097675
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K Amano. 1997. [Interventional phonocardiogram].. https://pubmed.ncbi.nlm.nih.gov/9097675/
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Many missense mutations in the beta-myosin heavy chain have been reported in patients with hypertrophic obstructive cardiomyopathy (HOCM). However, the controversy is present whether the mutation accompanying the change of electric charge is related with poorer prognosis. The proband, a 48-year-old female, of the family was diagnosed clinically as HOCM, and a structural analysis of the cardiac beta-MHC gene showed that the proband and her junior daughter had a novel mutation with T to A transition in codon 624 replacing tyrosine with asparagine, which was not present in her husband, elder daughter and son. The proband's husband, son and two daughters were healthy except that the ECG of junior daughter (15-year-old) showed complete right bundle branch block. Proband's mother died suddenly after the delivery of the proband and the proband also collapsed suddenly. The occurrence of sudden death in proband and her mother suggested that HOCM with this novel mutation might be associated with a high risk of sudden death irrespective of the absence of charge alteration.
Glutathione transferase (GST)-catalysed S-nitrosoglutathione (GSNO) formation from alkyl nitrites was determined with the homodimers 1-1, 2-2, 3-3, and 4-4 isolated from rat liver. The 4-4 isoform showed a high specificity for the alkyl nitrites. Total GST activities were studied in homogenates from different organs. The liver showed highest GST activity both with amyl nitrite and with 1-chloro-2,4-dinitrobenzene (CDNB) as substrate, the activity ratio of amyl nitrite over CDNB being 3.8. In lung and heart, these ratios were 6.2 and 5.7, respectively, indicating a selectivity of these organs for alkyl nitrite metabolism and GSNO formation.