Research finds strategy that may treat juvenile Batten disease – Baylor College of Medicine News (press release)

Testing a treatment for juvenile Batten disease in a mouse model of the condition

The scientists tested the effect of trehalose in a mouse model of juvenile Batten disease.

We dissolved trehalose in drinking water and gave it to mice that model juvenile Batten disease, said Sardiello. Then, over time we examined the mices brain cells under the microscope. We found that the continuous administration of trehalose inhibits Akt and activates TFEB in the brains of the mice. More active TFEB meant more lysosomes in the brain and increased lysosomal activity, followed by decreased accumulation of the storage material and reduced tissue inflammation, which is one of the main features of this disease in people, and reduced neurodegeneration. These changes resulted in the mice living significantly longer. This is a good start toward finding a treatment for people with this disease.

We are very excited that these findings put research a step closer to understanding the mechanisms that underlie human lysosomal storage diseases, said Palmieri. We hope that our research will help us design treatments to counteract this and other human diseases with a pathological storage component, such as Alzheimers, Huntingtons and Parkinsons diseases, and hopefully ameliorate the symptoms or reduce the progression of the disease for those affected.

The following researchers also contributed to this work: Rituraj Pal, Hemanth R. Nelvagal, Parisa Lotfi, Gary R. Stinnett, Michelle L. Seymour, Arindam Chaudhury, Lakshya Bajaj, Vitaliy V. Bondar, Laura Bremner, Usama Saleem, Dennis Y. Tse, Deepthi Sanagasetti, Samuel M. Wu, Joel R. Neilson, Fred A. Pereira, Robia G. Pautler, George G. Rodney and Jonathan D. Cooper.

This work was supported by NIH grant NS079618, grants from the Beyond Batten Disease Foundation, March of Dimes Foundation grant #5-FY12-114, and a Kings College London Graduate School International Studentship. This project was also supported in part by the Hamill Foundation and by IDDRC grant number 1U54 HD083092 from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (Cores: Mouse Neurobehavior, RNA In Situ Hybridization, and Integrated Microscopy).

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Visit here for more information about juvenile Batten disease.

Palmieri, M., et al., mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases, Nature Communications, February 2017, DOI: 10.1038/NCOMMS14338.

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Research finds strategy that may treat juvenile Batten disease - Baylor College of Medicine News (press release)