A Method To Isolate Pure Mitochondrial DNA


Mitochondrion is a critical organelle present in most of the eukaryotic cells.  Commonly known as the “power house of the cell” it is not only responsible for the production of ATP, but it is also involved in multiple cellular processes including oxidative phosphorylation, apoptosis, organizing cell signaling pathways, and regulation of cell cycle. 


Human Mitochondrial DNA (mtDNA) consists of 16,569 bp in a double stranded circular structure and encodes 37 genes. It is used to study human migration and evolution.  mtDNA is inherited from the mother, and does not undergo recombination, providing a molecular clock to study evolutionary changes.  Mutations in mtDNA are implicated in various diseases including metabolic disorders, neurodegenerative diseases, and cancer.  More than 200 different mutations in the mtDNA have been associated with human diseases.  Thus, sequencing the mitochondria can provide clues to origins of diseases as well as help delineate changes due to aging as well as somatic and germ-line mutations that might cause disorders.  In order to sequence the mtDNA, it is important to isolate the mtDNA effectively without any nuclear DNA contamination.  Owing to the immense size difference between human nuclear DNA (6 billion bp) and human mtDNA (16 kb), small amounts of nuclear DNA contamination can lead to most of the DNA sequences being of nuclear origin.  All current methods of isolating mitochondrial DNA involve first isolating the organelle and then purifying its DNA using standard protocols.  These methods involve steps that lead to loss of material and destruction of the mtDNA and substantial nuclear DNA contamination. The mtDNA has copies in the nuclear genome, so contamination of the nuclear DNA will lead to erroneous conclusions on mtDNA variants. Therefore, a way to isolate mitochondrial DNA without contamination from nuclear DNA is needed to diagnose and study disease states. 


Dr. Ravi Sachidanandam and his group at the Icahn School of Medicine at Mount Sinai have devised a method to efficiently and rapidly isolate mitochondrial DNA in high purity.  This method has been applied in a several cell types and validated by sequencing. 


Patent Status: Patent Pending


Keyword: Method

Patent Information:
For Information, Contact:
Mount Sinai School of Medicine
Anitha Jayaprakash
Ravi Sachidanandam
Basic Research
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