University of Padova

Partner 3: UNIPD

Team leader: Leonardo Salviati MD (Dept of Pediatrics, University of Padova)

Team members:

  • Lisa Franceschini (Dept of Pediatrics, University of Padova)
  • Francesca Pistollato (Dept of Pediatrics, University of Padova)
  • Giuseppe Basso MD (Dept of Pediatrics, University of Padova)
  • Anna Maria Laverda MD (Dept of Pediatrics, University of Padova)
  • Alberto Burlina MD (Dept of Pediatrics, University of Padova)
  • Paolo Bernardi MD (Dept of Biomedical Sciences, University of Padova)

Dr Salviati’s research has focused on the molecular bases of mitochondrial diseases. He has identified mutations in several nuclear and mitochondrial genes involved in respiratory chain disorder, and has investigated the function of SCO2, a gene that participates to the biosynthesis of complex IV of the respiratory chain. He will sequence coq genes patients with CoQ10 deficiency and characterize the biochemical and physiological aspects of CoQ10 deficient cells. He will be assisted by Drs. Franceschini and Pistollato.

Prof. AnnaMaria Laverda is the head of the child neurology group at the Dept of Pediatrics of the University of Padova. She has been working on the clinical aspects of neuromuscular disorders for more than 20 years and will collaborate in the recruitment of CoQ10 deficient patients.

Dr Alberto Burlina is the head of the Hereditary Metabolic Disease group at the Dept of Pediatrics. In the past 20 years has been studying inherited metabolic disease. His lab is equipped with state of the art instrumentation for the determination of CoQ10, and CoQ10 precursors in patients’ tissues, including HPLC, gas chromatography and tandem mass spectrometry.

Prof. Paolo Bernardi is a leading expert in mitochondrial physiology and in the pathophysiology of the mitochondrial the mitochondrial permeability transition pore. He will collaborate with us in the characterization of the cellular physiology of CoQ10 deficient fibroblasts.

Prof. Giuseppe Basso is the head of the pediatric oncology lab at the Department of Pediatrics. His group is working on the identification of genes involved in leukemia using high throughput microarray technology. He will collaborate in the study of gene expression profiles in CoQ10 deficient tissues.

The Padova group combines expertise from different fields: molecular genetics, analytical biochemistry, mitochondrial physiology and clinical neurology. The Department of Pediatrics of the University of Padova is on of the largest pediatric institutions in Italy and collects patients from all Italian regions.
Dr Salviati’s lab is located within the pediatric oncology lab at the Department of Pediatrics, University of Padova, headed by Prof. G. Basso. The laboratory is equipped with microarray facilities (spot-array and affymetrix), microscopes for immunofluorescence, flow cytometry, cell sorting, cell culture facilities and basic molecular biology facilities such as Southern Blot, Western Blot, PCR, Agilent Bioanalyzer, TAQMAN (ABI Prism 7700 sequence detector) and an ABI-prism 310 automated sequencer.

Contact: Leonardo Salviati leonardo.salviati@unipd.it

 
Ubigenes :: Genetics of coenzyme Q deficiency in humans