The role of epigenetics in disease development with a focus on cancer

Epigenetika je znanost koja proučava nasljedne promjene u funkciji gena uzrokovane promjenom ekspresije i nastale pod utjecajem epigenetskih mehanizama. Epigenetski mehanizmi uključuju metilaciju DNA (hipometilacija, hipermetilacija), histonske modifikacije (acetilacija, metilacija) i nekodirajuće RNA te su reverzibilni. Aberantna regulacija tih mehanizama može uzrokovati pojavu karcinoma, bolesti kod koje dolazi do nekontrolirane proliferacije stanica. Karcinom se razvija posljedično nakupljanju brojnih epigenetskih i genskih promjena. Zahvaljujući reverzibilnosti epigenetskih modifikacija razvijaju se nove vrste lijekova koje bi se koristile uz već dostupne oblike terapija čime se cilja na poboljšanje ishoda liječenja. Kao detaljniji primjer opsega epigenetskih modifikacija koje se mogu javiti prilikom nastanka specifičnog tipa karcinoma opisan je karcinom dojke.Epigenetics is a branch of science focused on studying heritable alterations in genes caused by changes of expression and driven by epigenetic mechanisms. Epigenetic mechanisms include DNA methylation (hypomethylation, hypermethylation), histone modifications (acetylation, methylation) and non-coding RNAs all of which are reversible modifications. Aberrant regulation of these mechanisms can cause cancer occurrence. Cancer is a disease characterized by uncontrolled cell proliferation and caused by an accumulation of epigenetic and genetic faults. New kinds of potential therapies revolving around the reversal of epigenetic modifications are investigated and are hoped to be used alongside existing therapies to better treatment outcome. For a more detailed look into the extent to which epigenetic modifications occur in a cancer, an example is given describing the breast cancer