Detection of deleted mitochondrial DNA in Kearns-Sayre syndrome using laser capture microdissection

Daniela Pistilli, Cira R T Di Gioia, Giulia D'Amati, Salvatore Sciacchitano, Raffaele Quaglione, Raffaella Quitadamo, Carlo Casali, Pietro Gallo, Filippo M. Santorelli

Research output: Contribution to journalArticle

Abstract

A novel 4949-base pair mitochondrial DNA (mtDNA) deletion was detected in various tissues in a postmortem study of a patient with Kearns-Sayre syndrome (KSS). Deleted mtDNA levels were higher in skeletal muscle and brain and lower in kidney, working myocardium, and endocrine tissues (thyroid, parathyroids, pancreas, and adrenal glands). The distribution of the deletion in skeletal muscle and conducting myocardium was analyzed by means of laser capture microdissection (LCM). In skeletal muscle, the abundance of deleted mtDNA was slightly higher in cytochrome c oxidase (COX)-negative fibers (70%) than in COX-positive fibers (64%), whereas in the conducting myocardium it was lower in the atrioventricular node (9%) than in the sinus node and bundle of His (30% and 32%, respectively). In this study, LCM proved to be a reliable technique for a more accurate assessment of genotype/phenotype correlation when investigating mtDNA-related disorders.

Original languageEnglish
Pages (from-to)1058-1061
Number of pages4
JournalHuman Pathology
Volume34
Issue number10
DOIs
Publication statusPublished - Oct 2003

Keywords

  • Cardiac conduction system
  • Kearns-Sayre syndrome
  • Laser capture microdissection
  • Mitochondrial DNA deletion

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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    Pistilli, D., Di Gioia, C. R. T., D'Amati, G., Sciacchitano, S., Quaglione, R., Quitadamo, R., Casali, C., Gallo, P., & Santorelli, F. M. (2003). Detection of deleted mitochondrial DNA in Kearns-Sayre syndrome using laser capture microdissection. Human Pathology, 34(10), 1058-1061. https://doi.org/10.1053/S0046-8177(03)00344-7