More mitochondrial links

Papers

2001

• High frequency of homoplasmic mitochondrial DNA mutations in human tumors can be explained without selection (from Nature Genetics 2001, Coller, et. al.)

A mathematical paper that established that neutral drift could account for the observed level of homoplasmy in tumors.

2003

• Mitochondrial DNA mutations in human colonic crypt stem cells

In this article, we describe…the accumulation of mtDNA mutations in human colonic crypt stem cells that result in a significant biochemical defect in their progeny. These studies have important consequences not only for understanding of the finding of mtDNA mutations in aging tissues and tumors, but also for determining the frequencey of mtDNA mutations within a cell.

2010

• The pattern of natural selection in somatic cancer mutations of human mtDNA

Another paper on selection among mtDNA mutations in tumors, which shows that tumors are more tolerant of mutations but that, for example, there is selection against mutations in the MTCO1 gene perhaps because tumors rely on that enzyme.

2017

• Cellular and population level processes influence the rate, accumulation and observed frequency of inherited and somatic mtDNA mutation

• The landscape of mtDNA modifications in Cancer: A Tale of Two Cities

This is a review article that looks at documenting the functional implications of mitochondrial mutations in cancer. The “two cities” in the title reflects the fact that the forces on mitochondria in tumors are quite different than in healthy cells. The paper states that

As data regarding somatic mtDNA mutations associated with cancer accumulate, it is apparent that some genetic alterations in the mitochondria contribute to tumorigenesis while others simply continue to collect as the cancer progresses.

2019

Lineage Tracing in Humans Enabled by Mitochondrial Mutations and Single-Cell Genomics

Potential use of mitochondrial mutations to track the lineage of cells and cell populations in humans.

Still uncategorized

• Simultaneous DNA and RNA mapping of somatic mitochondrial mutations across diverse human cancers
• Somatic alterations in mitochondrial DNA and mitochondrial dysfunction in gastric cancer progression
• Mitochondrial mutations in human cancer: curation of translation.
• Stochastic modelling, Bayesian inference, and new in vivo measurements elucidate the debated mtDNA bottleneck mechanism