Abstract

Fragile X syndrome (FXS) is the most common form of hereditary mental retardation and results from the absence of Fragile X mental retardation protein, an RNA-binding protein that regulates the translation of several mRNAs. By a comparative proteomic analysis of cortical synaptosomes of 21 days old wild-type and Fmr1 knockout (KO) mice, a model of FXS, we found twenty-one differently expressed proteins, including up-regulated mitochondrial glycerol-3-phosphate dehydrogenase (mG3P-DH), a key component of the glycerophosphate shuttle. Furthermore, an increased activity of mG3P-DH and of all mitochondrial respiratory chain complexes was detected in Fmr1 KO mouse cortex at different ages, whereas no change occurred in the activity of cytoplasmic glycerol-3-phosphate dehydrogenase and key glycolytic enzymes. We show for the first time that in FXS the activities of mitochondrial enzymes are increased, suggesting a possible mitochondrial hyper-activation that could have potential implications in whole energy metabolism in this disorder.

Autore Pugliese

• Valenti Daniela

Tutti gli autori

• S. D'Antoni ; L. de Bari ; M. Borro ; D. Valenti ; C.M. Bonaccorso ; M. Simmaco ; R.A. Vacca ; M.V. Catania

Titolo volume/Rivista

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Anno di pubblicazione

2017

ISSN

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ISBN

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Numero di citazioni Wos

Nessuna citazione

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Numero di citazioni Scopus

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Settori ERC

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Codici ASJC

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