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

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 a...

Full description

Saved in:
Bibliographic Details
Main Authors: Kummer, Susann (Author) , Wilichowski, Ekkehard (Author)
Format: Article (Journal)
Language:English
Published: 06 August 2018
In: Mitochondrion
Year: 2018, Volume: 43, Pages: 37-42
ISSN:1872-8278
DOI:10.1016/j.mito.2018.08.004
Online Access:Resolving-System, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.mito.2018.08.004
Verlag, lizenzpflichtig, Volltext: http://www.sciencedirect.com/science/article/pii/S156772491830014X
Get full text
Author Notes:Susann Kummer, Ekkehard Wilichowski
Description
Summary: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 microdissection and multiplex quantitative real-time PCR in single cells. The obtained results give new insights into the understanding of mitochondrial genetics, e.g. postulated sorting of damaged mitochondria, and heterogeneity of cells. Further, we discuss the relevance of intercellular heterogeneities for human mitochondrial disorders in general.
Item Description:Gesehen am 17.04.2020
Physical Description:Online Resource
ISSN:1872-8278
DOI:10.1016/j.mito.2018.08.004