Genomic imprinting ilişkili patolojler
Genomik imprinting ile ilişkili patolojiler
1-Male infertility
MTHFR “Methylene tetrahydrofolate reductase” enzim ilişkili H19 un Epigenetic deregulationuna neden olan hypermethylation
2-Prader-Willi/Angelman
Small nuclear ribonucleoprotein-associated protein N “SNRPN” ve Necdin “NDN” ilişkili Ubiquitin-protein ligase E3A UBE3A gen anomalisidir.
I-Paternal inheritance Prader-Willi syndrome (hypotonia, obesity, hypogonadism).
II-Maternal inheritance Angelman syndrome (epilepsy, tremors, smiling facial expression).
3-DIRAS3 yani “GTP-binding protein Di-Ras3” (NOEY2 yada ARH1 “ADP-ribosylarginine hydrolase 1”) Breast ve ovarian cancer ilişkilidir.
4-Diğer
I-Beckwith-Wiedemann syndrome, Silver-Russell syndrome, pseudohypoparathyroidism.
II-Transient neonatal diabetes mellitus
III-"Imprinted brain hypothesis" olarak da bilinen autism ve psychosis