Lesch-Nyhan syndrome (LNS) is a serious genetic disorder characterized by hyperuricemia, dystonia, spasticity, choreoathetosis, speech impediments, kidney problems, varying degrees of cognitive impairment and, in particular, on the drive to self-harm that uncontrollable by the characteristic behavior is defined properly as Lesch-Nyhan syndrome.
The disease originates by the absence or the low activity of the enzyme hypoxanthine-guanine-phosphoribosyl-transferase (HPRT), which normally is present in all cells of our body.
The Institute for Rare Diseases “M. Baschirotto “(BIRD) cares about this terrible syndrome since 1996 both in terms of social welfare and medical-scientific field, decreasing the terrible isolation of families, creating help and support group, promoting meetings, training courses, medical examinations and periodic recovery with the presence of a specific team composed by the same prof Nyhan.
In the Medical Genetics laboratories of the Institute genetic diagnosis for patients with Lesch-Nyhan syndrome and their families can be carried out. Meanwhile researchers at the Institute are proceeding whith the study of the mechanisms underlying the disease.
Services offered by this Institute for Lesch Nyhan Disease:
- Medical examination by specialists
- Genetic diagnosys
- Biomolecular and cellular research
- Foundation of European Group of Lesch-Nyhan Sydrome Families
- Paola Cattelan, Diego Dolcetta, Uros Hladnik and Elisabetta Fortunati. HIV-1 TAT-mediated protein transduction of human HPRT intodeficient cells. Biochem. Biophys. Res. Commun. 11 Nov 2013
- de Gemmis P, Anesi L, Lorenzetto E, Gioachini I, Fortunati E, Zandonà G, Fanin E, Fairbanks L, Andrighetto G, Parmigiani P, Dolcetta D, Nyhan WL, Hladnik U Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers. Mutat Res. (2010) 2010 Oct 13;692(1-2):1-5. Epub 2010 Jul 16 IF 3.764 (2010)
- Cristini S, Navone S, Canzi L, Acerbi F, Ciusani E, Hladnik U, de Gemmis P, Alessandri G, Colombo A, Parati E, Invernici G Human neural stem cells: a model system for the study of Lesch-Nyhan disease neurological aspects. Hum Mol Genet. (2010) 2010 May 15;19(10):1939-50. Epub 2010 Feb 16. IF 7.386 (2010)
- Hladnik U, Nyhan WL and Bertelli M. Variable expression of HPRT deficiency in 5 members of a family with the same mutation. Arch Neurol 2008; 65(9):1240-3 IF 6.31 (2010)
- Lapucci C, Pomaré Montin D, Pandolfo M and Bertelli M. Combination of linkage-study and real time PCR methods for the diagnosis of the Lesch-Nyhan Sindrome carriers in the case of deletions in HPRT gene .Mol Med. 2006 Sep-Oct;12(9-10):246-51. IF 3,349 (2005)
- Bertelli M, Cecchin S, Lapucci C, Jacomelli G, Jinnah HA, Pandolfo M, Micheli V. Study of the adenosinergic system in the brain of HPRT knockout mouse (Lesch-Nyhan disease). Clinica Chimica Acta 373: 104-107, 2006. IF 2,149 (2005)
- Bertelli M, Randi D, Micheli V, Gallo S, Andrighetto G, Parmigiani P, Jacomelli G, Carella M, Lievore C, Pandolfo M. Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations. J Inherit Metab Dis. 2004;27(6):767-73. IF 1,722 (2005)
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Reason: Contributo per Ricerca LNS
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