Atrazine induced epigenetic transgenerational inheritance of disease, lean phenotype and sperm epimutation
(11) SDH deficient GISTs and paragangliomas can also occur in the syndromic, nonhereditary Carney triad of paraganglioma, pulmonary chondroma, and SDH-deficient GIST, which is caused by SDHC promoter-specific CpG island hypermethylation; however, to date, this epimutation
has not been reported in SDH-deficient RCCs.
In brief, the preventative possibilities presented by the epimutation
model of cancer concern the identification of mutant genes responsible for the error-prone epigenetic copying and their repair or selective elimination of cells bearing these mutations.
Walker et al., "Recurrent epimutation
of SDHC in gastrointestinal stromal tumors," Science Translational Medicine, vol.
A maternal epimutation
of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.
Suthers et al., "Inheritance of a cancer-associated MLH1 germ-line epimutation
," The New England Journal of Medicine, vol.
LE: SENS Foundation has been investigating the possibility that mutation and epimutation
(changes in gene expression rather than alterations of the genes themselves) may be deleterious in ways other than cancer.
Evidence of constitutional MLH1 epimutation
associated to transgenerational inheritance of cancer susceptibility.
This observation supports the idea of transgenerational epigenetic inheritance; it suggests however that only some diseases that have the underlying epimutation
can be inherited.
of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.
(5) That is, the initial exposure to DDT may have caused an epimutation
in a would-be parent and this aberrant pattern was later inherited.
A rare constitutional epimutation
of MLH1 has also been reported, (47) potentially adding even further complexity to genetic testing for LS.