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Evidence for pathological mechanism underlying axonopathy and hereditary spastic paraplegia

In a recent article published in the 'Journal of Clinical Investigation', an international team of scientists led by Cambridge neuroscientist Dr Evan Reid and Dr Stephan Zuchner from the University of Miami reported that three mutations in the gene known as reticulon 2 on chromosome 19 cause a form of hereditary spastic paraplegia (HSP). HSP is characterised by progressive stiffness and weakness (spasticity) of the legs, caused by selective and specific degeneration of axons. Furthermore, the study showed that the reticulon 2 protein interacts with another HSP protein, spastin thus confirming its involvement in a network of interactions of HSP proteins that are involved in ER morphogenesis.

This is the first report that mutations in the reticulons can cause disease and strengthens the case that the subsequent abnormal ER morphogenesis is a likely molecular pathological mechanism for axonopathy and HSP. 

"Our work highlights important new disease mechanisms, which may provide a platform for us to study how axons are damaged in devastating illnesses such as HSP, and perhaps even in multiple sclerosis, which in some cases is very similar to HSP," explains Dr Reid, a Wellcome Trust Senior Research Fellow in Clinical Science. "But we must not forget how this work may immediately directly benefit families affected by HSP, for whom the discovery now opens up the possibility of genetic counselling and testing."

This study has far reaching implications as it may help provide scientists gain important insights into what causes axons to degenerate in other conditions such as multiple sclerosis.

Posted on 12/01/2012

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