26 May 2015
The genes that cause Carney triad remain unknown. Szarek and colleagues examined mitochondrial structure in human tumors and GI tissue of mice with SDH deficiency. Tissues from Carney triad tumors, isolated GIST, and Carney-Stratakis Syndrome were studied by electron microscopy. They concluded that all tissues studied shared identical abnormalities in mitochondrial structure and other features. Thus, Carney triad defects are likely to affect mitochondrial function, just as germline SDH-deficiency does.
Read the full article at Szarek et al. (2015) Endocrine-Related Cancer 22 345–352.
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