Hereditary spastic paraplegia development associated with changes in endoplasmic reticulum

September 24, 2013

Hereditary spastic paraplegias (HSP) are a group of hereditary diseases that result in progressive loss of motor function in the lower limbs, and mutations in many different genes have been implicated in disease progression. One common feature of HSP is the progressive degradation of the axons of cortical motor neurons; however, it is not fully understood how mutations in is so many different genes result in axonal degradation.

In this issue of the Journal of Clinical Investigation, Christian Hübner and colleagues at Jena University develop a mouse model of HSP by introducing a human-associated mutation into the gene encoding receptor accessory protein 1 (REEP1). Mice with this Reep1 mutation exhibited age-dependent loss of motor function and axonal degradation in the spinal cord.

The authors revealed a role for REEP1 in maintaining the shape of the endoplasmic reticulum (ER) and changes in ER structure associated with Reep1 mutations might impair ER function.

In the companion commentary, Ariel Deutch and colleagues at Vanderbilt University discuss how this new will be useful for understanding the how changes in ER morphology result in HSP-associated axon loss.

Explore further: Spasticity gene finding provides clues to causes of nerve cell degeneration

More information: A spastic paraplegia mouse model reveals REEP1-dependent ER shaping, J Clin Invest. 2013;123(10):4273–4282. DOI: 10.1172/JCI65665
REEPing the benefits of an animal model of hereditary spastic paraplegia, J Clin Invest. 2013;123(10):4134–4136. DOI: 10.1172/JCI72324

Related Stories

Gene required for nerve regeneration identified

November 1, 2012

A gene that is associated with regeneration of injured nerve cells has been identified by scientists at Penn State University and Duke University. The team, led by Melissa Rolls, an assistant professor of biochemistry and ...

Study offers new clues about hereditary spastic paraplegia

July 8, 2011

(Medical Xpress) -- New research from Rice University and Italy's Eugenio Medea Scientific Institute is yielding clues about hereditary spastic paraplegia (HSP), a group of inherited neurological disorders that affect about ...

Recommended for you

New insights on triggering muscle formation

April 26, 2017

Researchers at Sanford Burnham Prebys Medical Discovery Institute (SBP) have identified a previously unrecognized step in stem cell-mediated muscle regeneration. The study, published in Genes and Development, provides new ...

Risk of obesity influenced by changes in our genes

April 25, 2017

These changes, known as epigenetic modifications, control the activity of our genes without changing the actual DNA sequence. One of the main epigenetic modifications is DNA methylation, which plays a key role in embryonic ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.