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Embryonic stem cells cross-correct for defects found in a mutant mouse model for the neurodegenerative disorder known as Batten Disease

From an interview with Ted Tarkow, Professor of Classical Studies & Associate Dean of Arts & Science

Megan McFerson, Biological Sciences

Mark Kirk, Mentor

Our research focuses on a class of hereditary diseases called the neuronal ceroid-lipofuscinoses (NCLs), also known as Batten Disease. The NCLs are a group of autosomal, recessively inherited, progressive neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigment in various tissues, including the retina and CNS. We are focusing specifically on Early Infantile NCL, caused by a mutation in the Cln1 gene, the gene responsible for production of the lysosomal enzyme Palmitoyl Protein Thioesterease-1. PPT-1 breaks down lipopigments,so that when it is mutated lipopigments accumulate in lysosomes. Working on a mouse model with the Cln1 gene knocked out reveals an accumulation of autofluorescent lysosomal lipopigment in the brain. Our goal is to use murine embryonic stem cells to cross-correct for defects in the Cln1 mice. Preliminary results reveal that brain slices of Cln1 knockout mice transplanted with B5 stem cells show a reduction in the number of lysosomal lipopigments. In the future, we will transfect stem cells with the PPT-1 gene under the control of a regulated promoter, resulting in neural stem cells that will produce the PPT-1 enzyme on demand. We hope that these stem cells will be able to produce PPT-1 to reduce and possibly eliminate all the lysosomal storage bodies in the deficient cells, thus preventing cell death.