Combination of microdissection and single cell quantitative real-time PCR revealed intercellular mitochondrial DNA heterogeneities in fibroblasts of Kearns-Sayre syndrome patients.

Abstract excerpt

Kearns-Sayre syndrome (KSS) is a multisystemic disorder marked by aerobic cell metabolism dysfunction. Fibroblasts derived from KSS patient skin biopsy exhibit heterogeneous occurrence of mitochondrial genomes as those circular DNA molecules partially carry the common deletion. In our approach, we aim to evaluate the intercellular alterations in respect to mitochondrial DNA integrity by laser capture...

Topics

• Biopsy
• Child, Preschool
• DNA, Mitochondrial
• Female
• Fibroblasts
• Genetic Variation
• Humans
• Infant
• Kearns-Sayre Syndrome
• Laser Capture Microdissection
• Male
• Multiplex Polymerase Chain Reaction
• Real-Time Polymerase Chain Reaction
• Sequence Deletion
• Single-Cell Analysis
• Skin