Foto del docente

Anna Maria Ghelli

Associate Professor

Department of Pharmacy and Biotechnology

Academic discipline: BIO/10 Biochemistry

Curriculum vitae

Date and Place of Birth: May 6th 1966, Bologna, Italy


December 12th 1989 Degree in Biological Sciences, University of Bologna, Italy. Final grade: 110/110 cum laude

October 4th 1995 PhD in Biology and Physiology of the Cell, Department of Biology, University of Bologna, Italy.

1995 One year Telethon fellowship (project #616 granted to Dr. Mauro Degli Esposti), University of Bologna

1996-1997 Post doctoral fellowship, Department of Biochemistry, University of Bologna, Italy

Project title: Biochemical aspects of Leber's Hereditary Optic Neuropathy,


1998 - 2011: Permanent Position as Research Associate at the Laboratory of Biochemistry, Department of Biology, Faculty of Sciences, University of Bologna.

2011-to date: Permanent Position as Research Associate at the Laboratory of Biochemistry, Department of Pharmacy and Biotechnology , University of Bologna.


2001 to 2003: Methods in Biochemistry course for the Degree in Biotechnology, Faculty of Sciences, University of Bologna

2003 - 2012: Biochemistry course for the Degree in Biology, Faculty of Sciences, University of Bologna

2004 – 2008: Clinical Biochemistry course for the Degree in Biology, Faculty of Sciences, University of Bologna

2012- to date: Cellular Biochemistry course for the Degree in Biology, Faculty of Sciences, University of Bologna


Dr. Anna Ghelli is a cellular biochemist specialized in bioenergetics. Her work is focused on biochemical aspects of human mitochondrial diseases. In particular, her interest is on understanding the molecular mechanisms underlying the respiratory chain complexes deficiencies. During her phD, she studied and compared the relationships between structure and function of the respiratory complex I and III from mitochondria of different species. She characterized the specificity of different quinones and the effect of several inhibitors on complex I and III, revealing that these enzymes share similar quinones binding sites. In this way, she gained expertise on biochemical/kinetical approaches for the study of the respiratory complexes using quinones as substrates. In the early 90s, she started a fruitful collaboration with Dr. Carelli (Dept. of Neurology, Bologna) studying the biochemical effect of mitochondrial mutations associated with Leber’s Hereditary Optic Neuropathy and together they published several papers which shed light on the molecular mechanism of this disease with the aiming of finding new therapy strategies. After, she extended her studies on the field of the mitochondrial inherited neuropathies and in general on the mitochondrial diseases. In the last few years she has focused her studies on understanding the pathophysiology of human mitochondrial complex III with pathogenic cytochrome b mutations. In particular, she has studied in deep the relationships between complex III and the others respiratory chain complexes in their supramolecular organization, showing that organization of complex I and complex III in supercomplexes can be effective in mitigating the detrimental effects induced by pathogenic mutations in cytochrome b. In parallel, she provide her expertise for contributing to study the effect of mitochondrial DNA mutations in oncocytic tumors where disruptive mutations in complex I genes alter oxidative phosphorylation and lead to a cellular metabolic reprograming.

The research activity of Dr. Anna Ghelli is documented by about  71 publications in peer review journals reaching

3514 citations and an H index of 31 in WoS;

3669 citations and an Hindex of 33 in Scopus;

IF total (IF 2019): 341.198

IF medium (IF 2019): 5.093

The research topics and the relative publications are detailed as follows:

- Studies on structural and functional features of mitochondrial respiratory complexes isolated from various animals (Degli Esposti et al., 1989; Degli Esposti et al., 1990; Degli Esposti et al., 1992; Ghelli et al., 1992; Degli Esposti et al., 1993)

- Elaboration of a structural model for cytochrome b of mitochondrial complex III confirmed by the crystallization of the enzyme from other authors (Degli Esposti et al., 1993). Structural and functional carachterization of pathogenic mutations in cytochrome b (Ghelli et al 2013; Lanciano et al 2013; Carossa and Ghelli 2014; Iommarini et al., 2017: Tropeano et al., 2018; Malferrari et al., 2019; Tropeano et al., 2020).

- Identification of a new class of complex I inhibitors (acetogenins) that demonstrated the existence of a new Q binding site in this complex. Elaboration of a model for the complex I enzymatic mechanism (Degli Esposti et al 1994a; Degli Esposti et al., 1994b; Degli Esposti and Ghelli, 1994; Andreani et al., 1994; Andreani et al., 1995; Degli Esposti et al., 1996; Degli Esposti et al., 1996; Helfenbaum et al., 1997; Degli Esposti and Ghelli, 1999; Gonzalez-Halphen et al 2011).

- Demonstration that all the three LHON mutations affect the rotenone binding site of complex I, suggesting an altered stability of semiquinone intermediates formed during the catalytic cycle of the enzyme (Degli Esposti et al., 1994; Ghelli et al., 1997; Carelli et al., 1997; Baracca et al., 1997; Carelli et al., 1999; Carelli et al 2004; Georg et al., 2017).

- Demonstration of an energetic impairment in cybrids carrying LHON mutation that, in galactose medium, dead by an apoptotic mechanism caspase independent (Ghelli et al., 2003; Zanna et al., 2003; Zanna et al., 2005). The galactose model has been utilized in order to identify new drugs to block or reduce the onset of apoptotic cell death (Ghelli et al., 2008; Giordano 2010; Giorgio 2012; Pisano et al., 2015; Perli et al., 2020).

- Identification of impairment in oxidative phosphorylation and mitochondrial fusion in fibroblasts bearing OPA1 mutations associated with dominant optic atrophy (Zanna e Ghelli 2008; Carelli 2011; Trevisan et al., 2018; Barca et al., 2020).

Identification and biochemical carachterization of new mutations in LHON and DOA (Carelli et al 2011; Caporali et al 2013).

- Determination of pH differences across the outer mitochondrial membrane with a GFP (Porcelli et al., 2005). Studies on modification of intracellular pH and cellular volume during apoptosis (Ghelli et al., 2002; Porcelli et al., 2003; Porcelli et al., 2004). Analysis of involvement of Bcl-2 protein in stabilization of cytoskeleton during metabolic stress in cells with complex I dysfunction (Porcelli et al., 2008).

- Analysis of the influence of mtDNA background in increasing the sensitivity of Leber's Hereditary Optic Neuropathy to neurotoxic compounds (Ghelli et al., 2009) and to smoke derived compounds (Giordano et al , 2015). Analysis of the influence of mtDNA background in sensitivity to environmental toxic substances like pesticides (Strobbe et al., 2018)

Mitochondria and cancer

Functional and genomic studies in thyroid oncocitic tumours with mtDNA mutations and identification of mutations in complex I subunits as tumoral markers (Bonora et al., 2006; Gasparre et al., 2007).

Sudies on the genetic and metabolic features of oncocytic tumors (Gasparre et al., 2009; Porcelli et al, 2010, Gasparre et al., 2011; Iommarini et al, 2013; Calabrese et al, 2014; Iommarini et al., 2018; Iommarini et al., 2018).


Progetto Giovani Ricercatori 2000 – University of Bologna “Alterazioni biochimiche in linee cellulari transmitocondriali portatrici delle mutazioni associate alla neuropatia ottica ereditaria di Leber” (7000€.)

Telethon project GGP02323 (2002-2004) – “Leber’s Hereditary Optic Neuropathy: systematic investigation of energy depletion and oxidative stress and their relevance to cell death, using cybrid cell lines with 11778, 3460, 14484 and 14459 mutant mitochondria” – as PI of units 1 (50000 €)

Telethon project GGP06233B (2007-2009) - "Pathogenic mechanisms for degeneration of retinal ganglion cells in mitochondrial optic neuropathies" – as PI of units 2 (117000 €)

Progetto Nazionale AIRC (2009-2011) 'TRANSMIT - Translational significance of mitochondrial mutations in tumors.' (400000€) as Co-investigator (PI prof. G.Romeo)

E-Rare "European Research Projects on Rare Diseases" (2009-2012) – 'European Research project on Mendelian Inherited Optic Neuropathies' (35000€) as Co-Investigator (PI- Dr. Marinuzzi)

Telethon project GGP11182 (2011-2013)- 'Systematic gene hunting for nuclear modifiers in Leber's hereditary optic neuropathy and their validation in model systems'.(289000€) as Co-Investigator (PI Dr. Carelli)

NIH project (2011-2012) – “Bacterial cytochrome bc1: structure, function, biogenesis” (50000 US Dollars) as Co-Investigator (PI Prof. Daldal)

UMDF project 12-059 (2012-2014) - "Estrogen mediated regulation of mitochondrial biogenesis and functions: possible therapeutic implications for Leber’s hereditary optic neuropathy" (103000€)as Co-Investigator (PI Dr. Carla Giordano).



Reviewer for Molecular Genetics and Metabolism, Mitochondrion; Neuroscience Journal, Oxidative Medicine and Cell Longevity, Plos One.

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