Asxl1 loss effects lung maturation

Fig. 8: Hypothetical model for the epigenetic role of Asxl1 in regulating Nmyc expression during mouse fetal lung development. From: Asxl1 exerts an antiproliferative effect on mouse lung maturation via epigenetic repression of the E2f1-Nmyc axis. DOI 10.1038/s41419-018-1171-z

An important step towards a better understanding of the mechanism of ASXL1 mutation and Bohring-Opitz syndrome!

Little is known about the role of an ASXL1 mutation in the organ development. “Recent studies using Asxl1-null mouse models indicated a critical role for Asxl1 in development. Depending on the model, Asxl1 loss causes embryonic lethality and developmental abnormalities, including dwarfism, anophthalmia, microcephaly, kidney podocyte defects, and craniofacial defects.” In this study, published in ‘Cell Death and Disease’, Moon et. al. discovered that ASXL1 gene affect the lung development. They noticed that Asxl1−/− mouses were dying just after birth due to cyanosis, a respirator failure and suspected a reduced air space and a defective lung maturation. This prompted the researchers to investigate the underlying mechanism, focusing on the role of Asxl1 in lung development. Comparing a normal wild mouse, the Asxl1−/− mouse lung sank and […] failed to inflate with air because of its thicker alveolar wall, smaller air space, and more numerous small alveoli.

In most of the patients with Bohring-Opitz Syndrome the novo mutation in ASXL1 has been identified. Respiratory infections and reactive airway disease are common in patients with BOS and leading cause of death in the first two years of live (Russell et.al. 2016).

» Read here the article: Asxl1 exerts an antiproliferative effect on mouse lung maturation via epigenetic repression of the E2f1-Nmyc axis. By Seungtae Moon, et al. Cell Death & Diseasevolume 9, Article number: 1118 (2018). https://doi.org/10.1038/s41419-018-1171-z

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Google+ photo

You are commenting using your Google+ account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s

This site uses Akismet to reduce spam. Learn how your comment data is processed.