Lipofuscin accumulation and gene expression in different tissues of mnd mice

Giovanna Traina, Paolo Bigini, Giuseppe Federighi, Leopoldo Sitia, Gabriela Paroni, Fabio Fiordaliso, Monica Salio, Caterina Bendotti, Marcello Brunelli

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)247-257
Number of pages11
JournalMolecular Neurobiology
Issue number2
Publication statusPublished - Apr 2012


  • Gene expression
  • Lipofuscin accumulation
  • mnd mice
  • Neuronal ceroid lipofuscinosis
  • Peripheral markers

ASJC Scopus subject areas

  • Cellular and Molecular Neuroscience


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