Mutations in SDHD , a Mitochondrial Complex II Gene, in Hereditary Paraganglioma

These findings indicate that mitochondria play an important role in the pathogenesis of certain tumors and that cytochrome b in succinate-ubiquinone oxidoreductase plays a role in normal carotid body physiology

Bora E. Baysal; Robert E. Ferrell; Joan E. Willett-Brozick; Elizabeth C. Lawrence; David Myssiorek; Anne Bosch; Andel van der Mey; Peter E. M. Taschner; Wendy S. Rubinstein; Eugene N. Myers; Charles W. Richard; Cees J. Cornelisse; Peter Devilee; B. Devlin

2002

Scholarcy highlights

  • Hereditary paraganglioma is characterized by the development of benign, vascularized tumors in the head and neck
  • These findings indicate that mitochondria play an important role in the pathogenesis of certain tumors and that cytochrome b in succinate-ubiquinone oxidoreductase plays a role in normal carotid body physiology
  • The activated HIF-1 stimulates the synthesis of erythropoietin, which increases red blood cell mass; of vascular endothelial growth factor, which stimulates new blood vessel growth; and of tyrosine hydroxylase, which is involved in the control of ventilation by the CB
  • polymerase chain reaction amplifications of 50 to 100 ng of genomic DNA were performed in Techne PHC3 thermal cyclers using AmpliTaq Gold DNA polymerase
  • SSCP analysis was performed with genomic DNA as described [
  • The segregation of mutations in PGL families and screening in normal control chromosomes were performed by restriction enzyme analyses of mutant amplicons
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