Prof.

BARUFFINI Enrico

Ricercatore a tempo determinato
Settore scientifico disciplinare:
GENETICA (BIO/18)
  • Presentation
  • Curriculum Vitae
  • Teaching
  • Appointments
  • Research

During my career, I dedicated myself to the study of genetics, molecular biology and physiology of yeast, with particular interest on the defects of mitochondrial metabolism due to mutations in genes which are the cause of mitochondrial diseases in humans.

During my PhD course and my post-doc fellowship, both held at the University of Parma (Italy) under the supervision of Tiziana Lodi and Ileana Ferrero, I studied, with the help of molecular approaches, several aspects linked to replication of mitochondrial DNA (mtDNA) in yeast. My main interest concerned the creation of a yeast model system for the analysis of pathological mutations in the POLG gene, encoding the catalytic subunit of the mitochondrial DNA polymerase, whose mutations are associated to a wide range of mitochondrial disorders. Yeast was chosen because mtDNA replication apparatus is conserved between yeast and man and yeast can be easily manipulated thanks to the well-known techniques of molecular genetics and genetic engineering used in this organism.

This yeast model allowed me to study four main aspects linked to mutations in the yeast gene encoding for Polg, called MIP1:

1. validation of potentially pathological human mutations, i.e. evaluation, through study of the equivalent mutations in MIP1, of the effects of these mutations related to OXPHOS function and to extended and point mutability of mitochondrial DNA;

2. chemical rescue of the phenotype induced by MIP1 mutations, i.e. identification of molecules, in particular antioxidants, capable to reduce the effects on mitochondrial DNA instability induced by mutations;

3. genetic rescue of the pathological phenotype by means of overexpression of RNR1 gene, encoding the ribonucleotide reductase subunit R1;

4. understanding the molecular mechanisms underlying the pathology. This goal has been reached during the one-year stage at the FYSA Department in Louvain-la-Neuve (Belgium), under the supervision of Francoise Foury. There I studied the interactions between pathological MIP1 mutations located in cis or in trans and the molecular mechanisms of MIP1 mutations by means of measurement of mitochondrial protein levels and of in vitro polymerase activity of mutant variants of Mip1p.

In the last years, thanks to national and international collaborations, I studied mutations affecting genes involved in the modification/maturation of mitochondrial tRNAs, such as MTO1, encoding the mitochondrial tRNA uridine 5-carboxymethylaminomethylase, human ELAC2/yeast TRZ1, encoding the mitochondrial RNase Z, hTRIT1/yMOD5, encoding the A37 tRNA adenylate isopentenyltransferase, in the aminoacylation of mitochondrial tRNAs, such as hAARS2/yALA1 and hVARS2/yVAS1, encoding the mitochondrial alanyl-tRNA synthetase and valyl-tRNA synthetase, respectively, and hDNM1L,yDNM1, encoding a dynamin like protein involved in mitocjodnrial fission.

In 2013 Tiziana Lodi and me, toghether with our collaborators Agnes Delahodde, Laras Pitayu and Agnes Rotig from University of Paris-Sud (France), discovered, by the meaning of a high-throughput screening of FDA-approved drugs on yeast mip1 mutants, a molecule able to reduced the frequency of deletions in mtDNA for which a France patent has been filed and an EU patent is pending.

Since 2013, I’m working, as unit leader, on the study of pathological mutations in OPA1 in a proper yeast model constructed in our lab where human OPA1, unable by itself to complement the deletion in the yeast orthologous gene MGM1, was fused with a region of MGM1, leading to the construction of a functional chimera.

WORK ACTIVITY

 

2018-2021 Unit Leader

Italian “Ricerca Finalizzata 2016” Project  GR-2016-02361449: “ Italian Project on Hereditary Optic Neropathies (IPHON): from genetic basis to therapy”

University of Parma

Unit Leader of a project  funded by the Italian Ministry of Health for 450,000 € (89500 € to our Unit)

Business or sector University

 

1/3/2016-today Member of the Doctorate School of Biotechnologies and Life Sciences 

Department of Chemistry, Life Sciences and Environmental Sustainability

University of Parma

Unit Leader of a project  funded by the Italian Ministry of Health for 450,000 € (89500 € to our Unit)

Business or sector University

 

21/12/2015-today Researcher (Italian RTD-A) and Assistant Professor

Department of Life Sciences, then Department of Chemistry, Life Sciences and Environmental Sustainability

University of Parma

Experimental Research and Coordination of a research group

Business or sector University

 

05/10/2015-20/12/2015 Adjunct Professor

Teaching Course: Human Genetics at BSc Degree in Biology

University of Parma

Semester 42-hour course of Human Genetics

Business or sector University 

 

16/03/2014-today Unit Leader

Italian “Futuro in Ricerca 2013” Project RBFR13IWDS: “From yeast to human: how OPA1 isoforms and pathogenic mutations cause neurodegenerations characterized by mtDNA instability”

University of Parma

Unit Leader of a project  funded by the Italian Ministry of Education, University and Research for 450,000 € (158,000 € to our Unit)

Business or sector University

 

8/10/2008-15/03/2014 Post-doc Fellow

Department of Genetics, Biology of Microorganisms, Anthropology, Evolution, then Department of Life Sciences

University of Parma

Experimental Research

Business or sector University 

 

 

EDUCATION AND TRAINING   

 

01/01/2005-31/12/2007 PhD Degree

Department of Genetics, Biology of Microorganisms, Anthropology, Evolution

University of Parma

▪ Experimental Research on yeast as a model system of mitochondrial diseases

▪ Thesis supervisors: Ileana Ferrero and Tiziana Lodi

▪ Academic Qualification: PhD in Biotechnologies

▪ Evaluation: “Absolutely Satisfactory” 

 

 

 

01/01/2006-31/12/2006 PhD Course

Department FYSA

Catholic University of Louvain, Louvain-la-Neuve, Belgium

▪ Experimental Research on yeast as a model system of mitochondrial diseases caused by POLG mutations

▪ Thesis local supervisors: Françoise Foury

 

 

 

15/10/2002-16/11/2004 Master Degree

University of Parma

▪ Study of subjects related to Industrial and Molecular Biotechnologies

▪ Thesis supervisor: Tiziana Lodi

▪ Academic Qualification: MSc in Industrial Biotechnologies 

▪ Evaluation: 110/110 cum laude 

 

 

 

10/10/1999-21/07/2004 Bachelor Degree

University of Parma

▪ Study of subjects related to Biotechnologies

▪ Thesis supervisor: Giorgio Dieci

▪ Academic Qualification: BSc in Biotechnologies

▪ Evaluation: 110/110 cum laude 

 

PERSONAL SKILLS   

 

Mother tongue(s) Italian

Other language(s) UNDERSTANDING SPEAKING WRITING 

Listening Reading Spoken interaction Spoken production

English C1 C1 C1 C1 C1

Other language(s) UNDERSTANDING SPEAKING WRITING 

Listening Reading Spoken interaction Spoken production

French A1 A2 A1 A1 A1

 

Digital competence SELF-ASSESSMENT

Information processing Communication Content creation Safety Problem solving

Independent User Proficient user Basic User Basic User Independent user  

Good command of Office, software for image processing (Adobe Photoshop), molecular graphic software (SPDBViewer, Rasmol), bioinformatics software.

 

Technical skills

Molecular and biochemical methods: gene cloning and sequence analysis, PCR, colony PCR, mutagenic PCR, RT-PCR, qPCR, extraction of DNA from E. coli, extraction of nucleic acids and proteins from yeast, manipulation of DNA and RNA, transformation of yeast and E. coli, gene disruption in yeast, extraction of mitochondria and mitochondrial proteins, Southern blot, Northern blot, SDS-PAGE, Western blot, in vivo protein synthesis assay.

Physiology and genetics of yeast: sporulation, analysis of respiratory cytochromes, measurement of respiratory activity, analysis of the phenotypes associated with loss of mitochondrial DNA, assays of complexes II, III and IV, in gel ATPase assay.

Microscopy: use of a fluorescence microscope.

Publications

He is author of 34 publications on peer reviewed Journals

Patents

European and US patent number EP3226850 and US20170266136

Title: Compounds for the treatment of mitochondrial diseases

Inventors: Delahodde Agnès [Fr]; Pitayu Nugroho Laras [Fr]; Baruffini Enrico [It]; Lodi Tiziana [It]; Rötig Agnès [Fr]; Procaccio Vincent [Fr]

Applicants: Université Paris-Sud [Fr]; Centre Nat Rech Scient [Fr]; Univ D'angers [Fr]; Centre Hospitalier Univ D'angers [Fr]

 

French Patent pending number WO2016087771.

Title: COMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES

Inventors: DELAHODDE AGNÈS [FR]; PITAYU LARAS Ajeng [FR]; BARUFFINI ENRICO [IT]; LODI TIZIANA [IT]; RÖTIG AGNÈS [FR]; PROCACCIO VINCENT [FR]

Applicants: UNIV PARIS SUD [FR]; CENTER NAT RECH Scient [FR]; UNIV ANGERS [FR];

CT HOSPITALIER UNIVERSITAIRE D ANGERS [FR]

 

Projects

2018-2021 PI. Leonardo Caporali

 

Italian “Ricerca Finalizzata 2016” Project GR-2016-02361449: “ Italian Project on Hereditary Optic Neropathies (IPHON): from genetic basis to therapy”

Role: Unit Leader

 

01/11/2015-31/10/2018  PI: Ghezzi Daniele                                                  

Italian TELETHON Project GGP15041: "MitMed consortium: from the identification and characterization of nuclear genes responsible for human mitochondrial disorders towards potential therapeutic approaches in experimental models"

Role: Participant

 

03/14/2014-3/14/2017  PI: Zanna Claudia   

FIRB (Italian Future in Research) Project RBFR13IWDS: "From yeast to human: how OPA1 isoforms and pathogenic mutations cause neurodegenerations characterized by mtDNA instability” at the Department of Life Sciences, University of Parma, Parma, Italy

Role: Unit Leader

 

12/15/2011-12/15/2014  PI: Zeviani Massimo                                               

Italian TELETHON Project GGP11011: “MitMed: a multicenter consortium for the identification and characterization of nuclear genes responsible for human mitochondrial disorders”

Role: Participant

 

2007-2010  PI: Zeviani Massimo                                                                  

Italian TELETHON Project GGP07019: “Identification and characterization of nuclear genes responsible for human mitochondrial disorders”

Role: Participant

 

Honors and mentions

I received the Italian “Abilitazione Scientifica Nazionale” as Associate Professor in the SSD BIO/13: Applied Biology in 2016 (from 4/4/2017 to 4/4/2023).

I received the Italian “Abilitazione Scientifica Nazionale” as Associate Professor in the competitive sector 05/I1: Genetics and Microbiology in 2013 (from 1/12/2014 to 1/12/2020).

I received a special mention for the PhD thesis granted by the Italian Genetics Association in 2009, having dealt with "matters of general interest related to genetics, molecular biology and medicine."

Completion accademic year: 2019/2020

Completion accademic year: 2018/2019

Completion accademic year: 2017/2018

Completion accademic year: 2016/2017

Completion accademic year: 2015/2016

Professor/Teacher

  • First cycle degree (DM 270) BIOLOGY A.Y. 2016/2017

Ultime pubblicazioni:

Orcid

orcid.org/0000-0002-8280-7849

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Contacts

Phone number
905679
Office location

Department of Chemistry, Life Sciences and Environmental Sustainability

Parco Area delle Scienze 11/A

Room 13.02 1 012