Universitą degli studi di Pavia
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Arseni research activity
Identification of genetic markers associated with trichothiodystrophy and xeroderma pigmentosum
October 2010-at present. Laboratory of Human Genetics and Genomics, Institute of Molecular Genetics – National Research Council, Pavia-Italy.
The research activity has been focused on two complex hereditary disorders, trichothiodystrophy (TTD) and xeroderma pigmentosum (XP), characterised respectively by developmental and neurological anomalies or by an increased tumor incidence. These disorders are both defective in nucleotide excision repair (NER), the only DNA repair pathway devoted to the removal of UV-induced lesions in human cells. The finding that some of these functions are involved in transcription besides in NER has opened new perspectives to clarify the clinical spectrum of these disorders.
She has focused her research activity on characterizing the expression levels of genes that were found transcriptionally deregulated in either TTD or XP primary dermal fibroblasts by a transcriptome analysis. During her graduate studies, she analysed the expression and the protein content of HPS1, ADCY1, DST and KRTAP5-8 genes in XP dermal fibroblasts. At present, she is analysing a group of genes deregulated in TTD fibroblasts and encoding proteins involved in the formation and remodelling of extracellular matrix (ECM). This study has allowed the identification of ECM alterations in the dermis of TTD patients that could account for some of TTD clinical symptoms and that might represent genetic markers associated with TTD.
Animal models for the study of the effects of non-alcoholic steatohepatitis (NASH) on hepatic mitochondria.
April 2008-December 2008. Laboratory of Biochemistry, Faculty of MM.FF.NN. Sciences, Universitą del Salento, Lecce-Italy.
During the undergraduate studies she studied the Non-alcoholic Steatohepatitis (NASH), a disease characterised by liver inflammation and fat permeation. She performed several experiments to analyse the effect of NASH on mitochondrial respiratory activity by using rats as animal model. She contributed to the study by identifying a reduced amount of some ATP-Synthase subunits. Furthermore, she evaluated the activity of the mithocondrial respiratory chain by using polarographic techniques and the levels of ATP content in rat liver, which resulted significatively reduced in NASH rats.
October 2010-at present. Laboratory of Human Genetics and Genomics, Institute of Molecular Genetics – National Research Council, Pavia-Italy.
The research activity has been focused on two complex hereditary disorders, trichothiodystrophy (TTD) and xeroderma pigmentosum (XP), characterised respectively by developmental and neurological anomalies or by an increased tumor incidence. These disorders are both defective in nucleotide excision repair (NER), the only DNA repair pathway devoted to the removal of UV-induced lesions in human cells. The finding that some of these functions are involved in transcription besides in NER has opened new perspectives to clarify the clinical spectrum of these disorders.
She has focused her research activity on characterizing the expression levels of genes that were found transcriptionally deregulated in either TTD or XP primary dermal fibroblasts by a transcriptome analysis. During her graduate studies, she analysed the expression and the protein content of HPS1, ADCY1, DST and KRTAP5-8 genes in XP dermal fibroblasts. At present, she is analysing a group of genes deregulated in TTD fibroblasts and encoding proteins involved in the formation and remodelling of extracellular matrix (ECM). This study has allowed the identification of ECM alterations in the dermis of TTD patients that could account for some of TTD clinical symptoms and that might represent genetic markers associated with TTD.
Animal models for the study of the effects of non-alcoholic steatohepatitis (NASH) on hepatic mitochondria.
April 2008-December 2008. Laboratory of Biochemistry, Faculty of MM.FF.NN. Sciences, Universitą del Salento, Lecce-Italy.
During the undergraduate studies she studied the Non-alcoholic Steatohepatitis (NASH), a disease characterised by liver inflammation and fat permeation. She performed several experiments to analyse the effect of NASH on mitochondrial respiratory activity by using rats as animal model. She contributed to the study by identifying a reduced amount of some ATP-Synthase subunits. Furthermore, she evaluated the activity of the mithocondrial respiratory chain by using polarographic techniques and the levels of ATP content in rat liver, which resulted significatively reduced in NASH rats.
