It also adds that somatic de novo mutations are highly variable, may depend on tissue and age of the individual, and could add to predisposition for disease.
To explain the pathogenesis of these cases, the most accepted hypothesis will be the double hit theory: first hit, predisposition for disease as a consequence of primary mtDNA mutation, and second hit, the effects of genetic modifier.
In the experiments reported here we used a lupus model with a high genetic predisposition for disease.
The reviewed studies indicate that genetic predisposition for disease is best predicted in the context of environmental exposures.
Current research points to a variety of cellular, molecular and inflammatory pathways that directly damage brain structure or lead to a predisposition for disease that affects the CNS system through neuroinflammation, oxidative stress and glial activation [ 23, 24].
In genetic testing for adults, autonomy of choice is a key principle; people must decide for themselves whether they want to know their genetic make-up or predisposition for disease.
