Mechanism of complicated SPG49 HSP studied

TECPR2 protein deficiency affects multiple cell functions

 

Hereditary spastic paraplegias (HSPs) are a diverse group of neurodegenerative diseases that are characterized by axonopathy of the corticospinal motor neurons.

 

A mutation in the gene encoding for Tectonin β-propeller containing protein 2 (TECPR2) causes HSP that is complicated by neurological symptoms. While TECPR2 is a human ATG8 binding protein and positive regulator of autophagy, the exact function of TECPR2 is unknown.

 

Here, we show that TECPR2 associates with several trafficking components, among them the COPII coat protein SEC24D. TECPR2 is required for stabilization of SEC24D protein levels, maintenance of functional ER exit sites (ERES), and efficient ER export in a manner dependent on binding to lipidated LC3C.

 

TECPR2-deficient HSP patient cells display alterations in SEC24D abundance and ER export efficiency. Additionally, TECPR2 and LC3C are required for autophagosome formation, possibly through maintaining functional ERES. Collectively, these results reveal that TECPR2 functions as molecular scaffold linking early secretion pathway and autophagy.

 

SOURCE:   Mol Cell. 2015 Oct 1;60(1):89-104. doi: 10.1016/j.molcel.2015.09.010. Copyright © 2015 Elsevier Inc. All rights reserved. PMID: 26431026 [PubMed – indexed for MEDLINE]

 

TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER Export.

 

Stadel D1, Millarte V2, Tillmann KD2, Huber J3, Tamin-Yecheskel BC4, Akutsu M5, Demishtein A4, Ben-Zeev B6, Anikster Y6, Perez F7, Dötsch V3, Elazar Z4, Rogov V3, Farhan H2, Behrends C8.

 

1Institute of Biochemistry II, Medical School Goethe University, 60590 Frankfurt, Germany.

2Department of Biology, University of Konstanz, 78464 Konstanz, Germany; Biotechnology Institute Thurgau, 8280 Kreuzlingen, Switzerland.

3Institute of Biophysical Chemistry and Center for Biomolecular Magnetic Resonance, Goethe University, 60438 Frankfurt, Germany.

4Department of Biological Chemistry, Weizmann Institute of Science, Rehovot, 76100, Israel.

5Institute of Biochemistry II, Medical School Goethe University, 60590 Frankfurt, Germany; Buchmann Institute for Molecular Life Sciences, Goethe University, 60438 Frankfurt, Germany.

6Edmond and Lilly Safra Children’s Hospital, Sheba Medical Center, Ramat Gan, 52621, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv 69978, Israel.

7Institute Curie, CNRS UMR144, Paris, 75248, France.

8Institute of Biochemistry II, Medical School Goethe University, 60590 Frankfurt, Germany. Electronic address: [email protected].

 

 

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