In a paper published in the June 1 issue of the Journal of Biological Chemistry , UK molecular and cellular biochemistry assistant professor Haining Zhu reports on how mutations in the gene that makes superoxide dismutase 1 (SOD1) slows down the intracellular transport of molecules in neurons.

The results of the study by Zhu and his colleagues show that the defective transport of molecules is probably due to the aberrant interaction between the disease-causing SOD1 mutants and a motor complex that is essential to the intracellular transport in neurons. This provides new insight into ways to prevent or slow ALS.

ALS is characterized by the death of neurons that control voluntary muscles, leading to muscle weakness and atrophy. Around 25 percent of the familial forms of the disease have been linked to the mutation in the gene that makes SOD1. Until now, how the defective variants of the SOD1 protein may interact with other cellular components to cause the disease has remained unclear. Previous studies have shown slowing of transport process in ALS patients and in related animal models. However, it is unknown how the transport process is compromised. The new results from the study by Zhu and his colleagues provide a molecular mechanism for the defective transport in ALS.

The findings are presented in the article "Interaction between Familial Amyotrophic Lateral Sclerosis (ALS)-linked SOD1 Mutants and the Dynein Complex."

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Other visual problems were common as well ”46 percent of the children had a combination of abnormalities called anisometropia and astigmatism. These abnormalities most often affected the eye on the side opposite from the fused suture. In addition, strabismus was found in all patients with certain genetic abnormalities ”mutations of the FGF2 or FGF3 gene ”as the cause of their unicoronal synostosis.

The results confirm a high rate of strabismus ”over 50 percent ”and other visual problems among children with unicoronal synostosis. However, the location of the fused suture does not appear to affect which eye is affected by strabismus.

The results have important implications for craniofacial surgeons, plastic surgeons, and other doctors who care for children with unicoronal synostosis. It is vital important to recognize and treat problems like strabismus and anisometropia, which can lead to later vision loss and are not corrected by surgery to repair the skull deformation. Dr. MacIntosh and co-authors stress the need for careful follow-up of children with unicoronal synostosis until good visual acuity and binocular vision are ensured.

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