Study published in the Journal of the National Cancer Institute also found that mtDNA content is highly heritable.

A lower mitochondrial DNA (mtDNA) copy number is associated with an increased risk of renal cell cancer, according to group of scientists. Their study also found that mtDNA content appears to have high heritability.


Previous studies have suggested that low mtDNA copy number may be associated with an increased risk of a variety of cancers but none have explored its possible association with kidney cancer, according to the investigators.


In the first portion of the study the research team analyzed mtDNA copy number from the peripheral blood cells of over 300 identical and nonidentical twins to estimate the influence of genetics on copy number. In the second part they analyzed mtDNA copy number from 260 renal cell cancer patients and 281 control subjects to examine the association between copy number and renal cancer risk.


The investigators estimate that genetics accounts for 65% of the variation in mtDNA copy number. They also found that on average renal cancer patients had a lower mtDNA copy number in peripheral blood cells than the controls. Additionally, the group reports a statistically significant increased risk of developing renal cell cancer with decreasing mtDNA copy number.


Researchers involved in the study came from the University of Texas M. D. Anderson Cancer Center, Lombardi Comprehensive Cancer Center, University of California, San Francisco, Mayo Clinic, and SRI International. Their findings are published in the July 29 issue of the Journal of the National Cancer Institute.

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