Mitochondrial Translational Medicine

Topic

Mitochondrial diseases:  

we are focused on mendelian inherited mitochondrial diseases, a group of clinically and genetically heterogenous disorders presenting as a spectrum going from infantile and fatal multi-systemic syndromes to tissue-specific diseases. No definitive treatment is available.

Our goal is to study the mechanisms that underlie the tissue-specificity and clinical variability and to develop new and innovative pharmacological, mRNA drug-based or gene therapy strategies (CRISPR/CAs9, AAV, mRNA drugs).

Techniques:

MitoLab has multidisciplinary competence in genetics, molecular and cellular biology, bioinformatic approaches, in vivo and in vitro models (fibroblasts, Induced Pluripotent Stem Cells, neuronal and muscle lineages, organoids)

Other metabolic disorders:

our lab is also interested in defining the pathogenicity of novel gene variants and disease mechanism for other metabolic myopathy and neurogenetics disorders.

Clinical activity:

the research activity is directly linked with the mitochondrial clinics and rare disorders clinics of Prof.Caterina Garone based in the Child Neuropsychiatry Unit at S.Orsola Hospital. We are national referent center for Mitochondrial disease, and we have a number of clinical trials active in our unit.

Title projects:

• Tissue-specificity of the mtDNA metabolism disorders
• Tackling genetically inherited neurometabolic disorders by targeting mtDNA quantity and integrity with nucleases-therapy for mtDNA point mutations and novel designed RNA-drug therapies modulating pathways responsible of mtDNA metabolism
• Generazione di modelli in vitro per la deficienza di Complesso I dovuta a difetto della proteina NUBPL al fine di definire il meccanismo di malattia e identificare nuovi target terapeutici

Developing treatment strategy for RBCK1 defect in patients' derived stem cell models

Others Team Members:

Silvia Pelle, Molecular and Cell Biology Master Student

Anna Levarlet, Medicine and Surgery Student

Laura Preti, Medicine and Surgery Student

Sara Resciniti, Post-degree Medical Genetics Student (non medical access)

Ilaria Pettenuzzo, Child Neuropsychiatry Resident