Lipofuscin Accumulation and Gene Expression in Different Tissues of mnd Mice
| العنوان: | Lipofuscin Accumulation and Gene Expression in Different Tissues of mnd Mice |
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| المؤلفون: | Caterina Bendotti, Fabio Fiordaliso, Paolo Bigini, Giovanna Traina, Giuseppe Federighi, Gabriela Paroni, Monica Salio, Leopoldo Sitia, Marcello Brunelli |
| المصدر: | Molecular Neurobiology. 45:247-257 |
| بيانات النشر: | Springer Science and Business Media LLC, 2012. |
| سنة النشر: | 2012 |
| مصطلحات موضوعية: | Central Nervous System, Male, Protein subunit, Neuroscience (miscellaneous), Biology, medicine.disease_cause, Lipofuscin, Mice, Cellular and Molecular Neuroscience, Neuronal Ceroid-Lipofuscinoses, Gene expression, medicine, Animals, Humans, Tissue Distribution, Inner mitochondrial membrane, Gene, Mutation, Neurodegeneration, medicine.disease, Mice, Mutant Strains, Cell biology, Mice, Inbred C57BL, Disease Models, Animal, Gene Expression Regulation, Neurology, Biochemistry, CLN8, Female, Neuronal ceroid lipofuscinosis |
| الوصف: | Neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal storage diseases characterized by neurological impairment and blindness. NCLs are almost always due to single mutations in different genes (CLN1-CLN8). Ubiquitous accumulation of undigested material and of a hydrophobic inner mitochondrial membrane protein, the subunit c of mitochondrial ATP synthase, has been described. Although protein mutation(s) in the endoplasmic reticulum-lysosomes axis can modify the trafficking and the recycling of different molecules, one of the upstream targets in these diseases may be represented by the balance of gene expression. To understand if and how neurons modify the levels of important genes during the first phases of the disease, it is important to characterize the mechanisms of neurodegeneration. Due to the impossibility of performing this analysis in humans, alternative models of investigation are required. In this study, a mouse model of human NCL8, the mnd mouse has been employed. The mnd mice recapitulate many clinical and histopathological features described in NCL8 patients. In this study, we found an altered expression of different genes in both central and peripheral organs associated with lipopigment accumulation. This is a preliminary approach, which could also be of interest in providing new diagnostic tools for NCLs. |
| تدمد: | 1559-1182 0893-7648 |
| DOI: | 10.1007/s12035-012-8248-y |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47bacfa3e55c14dc4c7db95b74586b62 https://doi.org/10.1007/s12035-012-8248-y |
| Rights: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....47bacfa3e55c14dc4c7db95b74586b62 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15591182 08937648 |
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| DOI: | 10.1007/s12035-012-8248-y |