Ricerca, innovazione e società Unità/gruppi di ricercaThe Section of BiochemistryBone and musculoskeletal disorders and rare diseases

Bone and musculoskeletal disorders and rare diseases

Research Team’s name

Bone and musculoskeletal disorders and rare diseases

Acronimo (BUONDì)

Coordinator

Iantomasi Teresa

Brief Biographical sketch of the Coordinator

1983: Degree in Biological Sciences

1983–1988: Volunteer research at the Institute of Biological Chemistry (later the Department of Biochemical Sciences) at the University of Florence

1990: Technical collaborator at the Department of Biochemical Sciences at the University of Florence

1993: PhD in Biochemistry at the University of Florence

1998–present: Researcher (BIOS-07/A, formerly BIO10) at the Faculty of Pharmacy, University of Florence

2005–2010: Member of the Self-Assessment Group (GAV) for the Environmental Toxicology course at the Faculty of Pharmacy, University of Florence

2012–2019: Member of the academic group for the PhD course in Biochemistry and Molecular Biology', University of Siena

2024- Scientific director of the joint laboratory FIRMOLab 2.0

https://cercachi.unifi.it/p-doc2-0-0-A-3f2a3d2c352828.html

 

Research Team

1. Roberto Carossino (Tecnico)
2. Luisella Cianferotti, MD, PhD, (PA)
3. Simone Donati, Postgraduate Research Fellow
4. Irene Falsetti, Postgraduate Research Fellow
5. Gemma Marcucci, MD, PhD, (PA)

Current research interest

• Metabolic effects of Vitamin D and its derivatives;
• Pathogenesis of Parathyroid Disorders;
• Multiple Endocrine Neoplasia tipe I and tipe II;
• Redox regulation of biological processes including bone remodelling;
• Bone Cell Biology;
• Molecular biology at the base of the pathogenesis of primary bone tumors
• Cannabinoids and biological effects;
• Musculoskeletal Cell Biology;
• Cellular, molecular and biochemical bases of rare mineral and bone metabolism disorders
• The role of estrogen receptor beta in colorectal cancer.
• Molecular mechanisms and molecular targets (e.g. non-coding RNA) underlying several bone metabolism diseases.

Key words

Oxidative stress; bone metabolism; non-coding RNA; receptor estrogen beta, cannabinoids; vitamin D; physiology of skeletal muscle

Current/recent sources of funding

Regione Toscana, Fondazione Ente Cassa di Risparmio di Firenze, aziende farmaceutiche, elargizioni liberali da Fondazioni private di ricerca, MUR.

 

10 best pubblications of the last 5 years

1. Brandi ML, Marini F, Parri S, Bandinelli S, Iantomasi T, Giusti F, Talluri E, Sini G, Nannipieri F, Battaglia S, Tripepi G, Egan CG, Ferrucci L. Evolving our understanding of vitamin D, periostin levels and cardiovascular risk in the elderly: a cross sectional study. Osteoporos Int. 2026;37:243-253.
2. Falsetti I, Palmini G, Donati S, Aurilia C, Zonefrati R, Di Filippo L, Giustina A, Giannini S, Arcidiacono GP, Iantomasi T, Lazzerini D, Joos-Vandewalle P, Lee C, Brandi ML. X-Linked Hypophosphatemia: Role of Fibroblast Growth Factor 23 on Human Skeletal Muscle-Derived Cells.Calcif Tissue Int. 2025;116:120.
3. Donati S, Aurilia C, Marini F, Giusti F, Palmini G, Falsetti I, Cioppi F, Ranaldi F, Iantomasi T, Moro A, Tonelli F, Brandi ML.Serums miR-24-3p and miR-1301-3p as Potential Biomarkers in MEN1 Syndrome. Int J Mol Sci. 2025;26:5076
4. Faraoni P, Campo M, Gnerucci A, Vignolini P, Ranaldi F, Iantomasi T, Bini L, Gori M, Giordani E, Natale R, Nin S, Carossino R, Biricolti S. Polyphenolic Profile and Biological Activities in HT29 Intestinal Epithelial Cells of Feijoa sellowiana Fruit Extract.Int J Mol Sci. 2025;26:7851.
5. Falsetti I, Palmini G, Zonefrati R, Vasa K, Donati S, Aurilia C, Baroncelli A, Viglianisi C, Ranaldi F, Iantomasi T, Procacci P, Menichetti S, Brandi ML. Antiproliferative Role of Natural and Semi-Synthetic Tocopherols on Colorectal Cancer Cells Overexpressing the Estrogen Receptor β. Int J Mol Sci. 2025;26:2305.
6. Donati S, Palmini G, Aurilia C, Falsetti I, Marini F, Galli G, Zonefrati R, Iantomasi T, Margheriti L, Franchi A, Beltrami G, Masi L, Moro A, Brandi ML. Establishment and Molecular Characterization of a Human Stem Cell Line from a Primary Cell Culture Obtained from an Ectopic Calcified Lesion of a Tumoral Calcinosis Patient Carrying a Novel GALNT3 Mutation. Genes (Basel). 2025;16:263.
7. Iantomasi T, Romagnoli C, Palmini G, Donati S, Falsetti I, Miglietta F, Aurilia C, Marini F, Giusti F, Brandi ML. Oxidative Stress and Inflammation in Osteoporosis: Molecular Mechanisms Involved and the Relationship with microRNAs. Int J Mol Sci. 2023;24:3772.
8. Romagnoli C, Zonefrati R, Lucattelli E, Innocenti M, Civinini R, Iantomasi T, Brandi ML. In Vitro Effects of PTH (1-84) on Human Skeletal Muscle-Derived Satellite Cells Biomedicines. 2023;11:1017.
9. Domazetovic V, Falsetti I, Ciuffi S, Iantomasi T, Marcucci G, Vincenzini MT, Brandi ML Effect of Oxidative Stress-Induced Apoptosis on Active FGF23 Levels in MLO-Y4 Cells: The Protective Role of 17-β-Estradiol. Int J Mol Sci. 2022;23:2103.
10. Domazetovic V, Falsetti I, Viglianisi C, Vasa K, Aurilia C, Stio M, Menichetti S, Iantomasi T. Protective Role of Natural and Semi-Synthetic Tocopherols on TNFα-Induced ROS Production and ICAM-1 and Cl-2 Expression in HT29 Intestinal Epithelial Cells. Antioxidants (Basel). 2021;10:160.

 

Previeus research experiences

•     The molecular mechanisms involved in the pathology of inflammatory bowel disease related to ROS production, adhesion, apoptosis, cytokine synthesis and fibrosis.

Metabolic differences and the effects of vitamin D and its derivatives (25-hydroxyvitamin D3 and 1,25-dihydroxyvitamin D3) on the transmembrane transport systems of metabolites in the organs of rats fed a diet that induces rickets.

• Influence of ageing on the activity of the Na+-dependent glucose transport system in the brush border membranes of the human intestine and intestinal and renal brush border of the rat.
• The antioxidant biological role of glutathione (GSH), related enzymes, and the process of cerebral ageing in the cortex and synaptosomes of the rat brain.
• Trans-membrane transport systems of GSH and its derivatives in the intestinal brush border of rabbits, rats and humans, in synaptosome membranes of the cerebral cortex of rats, in human embryonic intestinal cells (I407) and in murine fibroblasts (NIH3T3).
• Relationship between GSH metabolism, oncogenic transformation and drug-radio resistance.

 

Collaborations

 

•     Fondazione Italiana Ricerca sulle Malattie dell’Osso (F.I.R.M.O. ETS) Onlus: The F.I.R.M.O. ETS Foundation is directed by Prof. Maria Luisa Brandi (MD, PhD). She is an International Visiting Professor of Endocrinology at McMaster University in Canada and a professor at Vita-Salute University in Milan. She was formerly a full professor at the University of Florence until 2020 and is a renowned expert in bone metabolism, skeletal health and endocrine research. Her clinical and research laboratory (FirmoLab) carry on studies on the cellular and molecular bases of rare and non-rare diseases related to mineral and bone metabolism and related to skeletal muscle diseases. The Research Unit collaborates closely with the F.I.R.M.O. Foundation and its research team, conducting several in vitro studies on rare and non-rare bone and mineral metabolism diseases. Th research team of F.I.R.M.O. Foundation is made by:

• Dr Francesca Marini (PhD), a postdoctoral researcher and medical genetics expert who oversees all clinical research projects on rare and non-rare diseases of mineral and bone metabolism. Complementing her expertise in basic research, she is also engaged in a clinical diagnostic project targeting a rare genetic disease
• Dr. Gaia Palmini (PhD), a postdoctoral researcher, cellular and molecular biology expert, and manager of research conducted at FirmoLab. Complementing her expertise in basic research, she is also engaged in a clinical diagnostic project targeting a rare genetic disease
• Dr. Roberto Zonefrati, a senior scientist with extensive experience in cellular biology and in establishing primary cell lines from human tissues, is also the other manager of FirmoLab.

•     Stabilimento Chimico Farmaceutico Militare di Firenze (SCFM) – Agenzie Industrie Difesa (AID): SCFM-AID is directed by Col. Arcangelo Moro. Since 2020, the Research Unit has collaborated with SCFM-AID and the F.I.R.M.O. ETS Foundation to conduct in vitro studies on the effects of phytocannabinoids on physiological and pathological processes, leveraging unique, specific bioassays developed in collaboration with the F.I.R.M.O. ETS Foundation. Foundation, thanks to funding by FCRF.

•     Research Unit of Prof. Stefano Menichetti (DICUS_UNIFI): The Research Unit is conducting an in vitro study on the antioxidant and cytotoxic effects of vitamin E and its synthetic analogs, which were developed and produced by Prof. Menichetti's research team, on a colon rectal carcinoma in vitro model.

•     In addition, the Research Unit collaborates with the research team of Dr Francesco Ranaldi (DSBSC_UNIFI), carrying out several studies, particularly specific research into the biochemical aspects that characterise the altered biology and functionality of skeletal muscle tissue in the absence of alkaline phosphatase (ALP), with the aim of understanding the biochemical basis of muscle weakness in patients with hypophosphatasia, a rare metabolic bone disease characterised by low ALP levels.