Keisaku Sato

Citation

Thesis Title
A functional analysis of RYRI mutations causing malignant hyperthermia

Read article at Massey Research Online:

Mr Sato investigated functional effects of mutations within the specific gene causing rare human myopathies called malignant hyperthermia and central core disease. He accomplished the cloning of the gene of interest and established techniques for protein expression and functional analyses using that clone. His results indicate that a single mutation within the gene can change the protein function leading to either of the two disorders independently. Mr Sato’s findings are important for affected families in New Zealand because they inform the design of diagnostic methods.

Supervisors
Professor Kathryn Stowell
Associate Professor John Tweedie