Long‐Extension PCR Studies of Mitochondrial DNA Deletions in Irradiated MOLT‐4 (Human Acute Lymphoblastic Leukemia) Cells and Pearson's Syndrome Fibroblasts

Abstract

Mitochondrial DNA, a double‐stranded circle, undergoes large‐scale deletion events. In humans, many of these mitochondrial DNAs that bear deletions can accumulate and compromise energy production. Cells with high energy demands are particularly affected, leading to a variety of disorders. As a first step in an effort to determine how these large‐scale deletions arise, we have developed a long‐extension PCR assay that detects these deletions. Here we show the assay used to observe deletions in the mtDNA of γ‐irradiated human MOLT‐4 cells (a lymphoblastic cell line) as well as in a fibroblast cell line derived from a boy known to have elevated levels of a 4977‐bp deletion called the “common deletion”.This research was sponsored by the Camille and Henry Dreyfus Foundation, the Geneseo Foundation and the SUNY Geneseo Student Association.