Seminario IRSJD: Mitochondrial DNA deletions: Quantitative evaluation of single and multiple deletions generation and expansion in single cells

• Ponente: Selena Trifunov, PhD, Investigadora Fundació Sant Joan de Déu – IRSJD.

Resum

Mitochondrial DNA (mtDNA) deletions are pathogenic mutations removing large portions of mitochondrial genome. Depending of their load (threshold) and spread (clonal expansion), phenotypes seen in patients range from severe congenital conditions (Pearson or Kearns-Sayre syndromes) to mild ophtalmoplegia and ptosis presented at middle age. Many questions regarding the mechanisms involved in clonal expansion as well as the origins and transmission of mtDNA deletions remain open, mostly due to the lack of sensitive methods that would allow their exploration. In the presented study, I describe the use of two highly sensitive techniques (Droplet Digital PCR and Laser Capturing Microscopy) to explore the mtDNA deletions. Also, the benefits this study has brought to our understanding of clonal expansion and origins of these mutations will be discussed. This study has been performed at Bellaria Hospital- Institute for Neurological Science in Bologna (Italy) and Newcastle University-Institute for Genetic Medicine (UK).