Genetics and cell biology
The research activity of this group is focused on molecular definition of rare genetic disorders, and on the pathophysiology of the skeletal development. Pediatric endocrinology Unit has two main research focus: understanding the molecular causes responsible for endocrinological diseases of childhood, and studying the pathophysiology of bone mass acquisition.
Genetics of pediatric endocrine diseases.
Several endocrine pediatric diseases have very clear and specific genetic causes. This unit, in collaboration with several Pediatric and Endocrine Units, is involved in the definition of the molecular defects of some rare endocrine disorders, as congenital hypothyroidism, hypophosphatemic rickets, hypoparathyroidism, and hypophosphatasia.
Physiopathology of skeletal development.
Osteoporosis has its antecedents during infancy and adolescence. Bone mass increases markedly during growth, and it reaches a peak at the end of the second decade (peak bone mass). Reaching an optimal peak bone mass is a recognized pivotal key factor in the prevention of osteoporosis. Nevertheless, the factors regulating the skeletal metabolism during the acquisition of peak bone mass are largely unknown. This group has a long standing record in these field of research, particularly in the definition of normal physiology of bone mass acquisition, and on bone mass alterations in chronic pediatric diseases (i.e. celiac disease, HIV infection).
Giacomet V, Maruca K, Ambrosi A, Zuccotti GV, Mora S. A 10 year follow-up of bone mineral density in HIV-infected youths receiving tenofovir disoproxil fumarate. Int J Antimicrob Agents. 2017 Sep;50(3):365-370.
Maruca K, Brambilla I, Mingione A, Bassi L, Capelli S, Brasacchio C, Soldati L, Cisternino M, Mora S. Autosomal dominant hypocalcemia due to a truncation in the C-tail of the calcium-sensing receptor. Mol Cell Endocrinol. 2017 Jan 5;439:187-193.
Tisè M, Ferrante L, Mora S, Tagliabracci A. A biochemical approach for assessing cutoffs at the age thresholds of 14 and 18 years: a pilot study on the applicability of bone specific alkaline phosphatase on an Italian sample. Int J Legal Med. 2016 Jul;130(4):1149-1158.
Capelli S, Donghi V, Maruca K, Vezzoli G, Corbetta S, Brandi ML, Mora S, Weber G. Clinical and molecular heterogeneity in a large series of patients with hypophosphatemic rickets. Bone 2015 Oct;79:143-9.
Zuccotti G, Vigano A, Gabiano C, Giacomet V, Mignone F, Stucchi S, Manfredini V, Marinacci F, Mora S. Antiretroviral therapy and bone mineral measurements in HIV-infected children and youths. Bone 2010 Jun;46(6):1633-8.
Hu J, Mora S, Proverbio MC, Jones KA, Bolzoni L, Colussi G, Spiegel AM. Autosomal dominant hypocalcemia caused by a novel mutation in the loop 2 region of the human calcium receptor extracellular domain. J Bone Miner Res. 2002 Aug;17(8):1461-9.
Mora S, Sala N, Bricalli D, Zuin G, Chiumello G, Viganò A. HAART-associated bone mineral loss through increased rate of bone turnover in vertically HIV- infected children. AIDS 2001 Sept;15(14):1823-1829.
Mora S, Pitukcheewanont P, Kaufman FR, Nelson JC, Gilsanz V. Biochemical markers of bone turnover and changes in the volume and the density of bone during puberty. J Bone Miner Res. 1999; 14(10):1664-1671.
Gilsanz V, Roe TF, Mora S, Costin G, Goodman WG. Changes in vertebral bone density in black girls and white girls during childhood and puberty. N Engl J Med. 1991; 325 (23): 1597-1600.
Mora S, Barera G, Ricotti A, Weber G, Bianchi C, Chiumello G. Reversal of low bone density with gluten-free diet in children and adolescents with celiac disease. Am J Clin Nutr. 1998 Mar;67(3):477-81.