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epigenetic disease
Genetics:
malignant neoplasms
- epigenetic instability may be a central feature of cancer
- neoplasms are associated with widespread losses & some gains of DNA methylation throughout the genome
- differences in neoplasms are related to the tissue of origin & spectrum of mutations associated with that organ
- properties of neoplasm heterogeneity & therapeutic resistance are epigenetic & shared among neoplasms
- epigentic changes appear to drive metastases
aging
- epigenetic changes occur with aging
- in vitro manipulations can reverse the age-related epigenetic changes
- a combination of 3 genes (Oct4, KLF4, SOX2) into mouse & human retinal neurons can restore a youthful epigenetic pattern & enhance regeneration following injury
- viral vector carrying these 3 genes injected it into vitreous humor of mice going blind from aging fully restored vision
- correlate age-related macular degeneration? [2]
eye disease
- if 3 genes transfected viral vector injected into aqueous humor of mice going blind from glaucoma, ~50% of vision restored [2]
Related
epigenetic
General
genetic disease
References
- Feinberg AP
The Key Role of Epigenetics in Human Disease Prevention and
Mitigation.
N Engl J Med 2018; 378:1323-1334. April 5, 2018
PMID: 29617578
http://www.nejm.org/doi/full/10.1056/NEJMra1402513
- Lu Y, Brommer B, Tian X et al.
Reprogramming to recover youthful epigenetic information and restore vision.
Nature 2020 Dec; 588:124-129
PMID: 33268865
https://www.nature.com/articles/s41586-020-2975-4
- Cavalli G, Heard E.
Advances in epigenetics link genetics to the environment and disease.
Nature. 2019;571(7766):489-499
PMID: 31341302
https://www.nature.com/articles/s41576-018-0004-3