Dr. Tanju YILDÖN & Tıp Bilim Eğitimi

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