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Patients with McCune-Albright syndrome have somatic mutations (mutations in body cells as opposed to germ cells) of an intracellular hormone-signaling pathway that cause the pathway to remain constantly active.
The usefulness of detecting tumor-specific mtDNA mutations in body fluids requires further investigation for diagnosis and monitoring applications.
We extend the detection of mtDNA mutations as biomarkers of cancer to the detection of mtDNA mutations in body fluids.
Our results also suggest that mtDNA mutations in body fluids can partially distinguish lung cancer patients from heavy smokers.
Whether the detection of tumor-specific mtDNA mutations in body fluidsy this method will be useful for diagnosis and monitoring applications requires further investigation.
The detection of mtDNA mutations in body fluids using resequencing microarrays, which are more sensitive than other sequencing methods, could provide a strategy to measure mutation loads in remote anatomical sites.
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However, mutations in somatic (body) cells will exert their effect only on that individual and will not be passed on to progeny.
This study did not detected similar mutations in the body fluids with respect to the tumor.
More recent evidence is emerging for a role of heterozygous glucocerebrosidase (GBA1) mutations in Lewy body spectrum disorders [ 79- 81].
Such somatic mutations, as those in body cells are known, can cause chaos in an individual's organs, but are not passed to his or her offspring.In the case of cancer, an accumulation of somatic mutations causes a breakdown of the regulatory mechanisms that stop a cell from multiplying uncontrollably.
Both reviewers suggest an analysis of mutations in the Sec body component Sec24AB that selectively perturbs Sec body formation, such as in the disordered region of postulated to contribute to lipid droplet Sec body properties.
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