What is it about?
Miller-Dieker syndrome (MDS) is caused by the microdeletion of the chromosome 17p13.3, called MDS critical region. It is well known that Lis1, Crk and 14-3-3epsilon in 17p13.3 are responsible genes for MDS. However, the MDS critical chromosome region contains 26 gens, including PEDF (Serpinf1). Therefore, we analyzed and found the importance of PEDF and its receptor Rpsa in cortical development. PEDF plays a key role in neurite formation and spine formation during cortical development.
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Why is it important?
Our findings show PEDF-Rpsa (receptor for PEDF)-Itga6 regulates neurite formation and spine formation. Serpinf1gene, coding for PEDF protein, is localized on chromosome 17p13.3, where often deleted or duplicated in Miller-Dieker syndrome (MDS) and the 17p13.3 microduplication syndrome. Defects in neurite formation affects later steps of neuronal development, such as neural connectivity and neural activity. MDS patients suffer from severe seizure. Therefore, our finding gives the first evidence that the defects in the PEDF signaling pathway is involved in MDS.
Perspectives
It is known that Lis1, Crk and 14-3-3epsilon in 17p13.3 are responsible genes for MDS. However, the MDS critical chromosome region contains 26 gens, including PEDF (Serpinf1). Thus, we know a bit about MDS etiology, but we still don't know many thins about MDS. Please don't say that we know already MDS etiology.
Kazuhito Toyooka
Drexel University
Read the Original
This page is a summary of: PEDF-Rpsa-Itga6 signaling regulates cortical neuronal morphogenesis, January 2020, Cold Spring Harbor Laboratory Press,
DOI: 10.1101/2020.01.06.895672.
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