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DALI, DALIA (2010) Alterations of uromodulin biology and FJHN/MCKD syndrome. [Tesi di dottorato]

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Abstract (inglese)

Medullary cystic kidney disease/familial juvenile hyperuricemic nephropathy (MCKD/FJHN) are autosomal dominant renal disorders characterized by tubulo-interstitial fibrosis, hyperuricemia and medullary cysts . They are caused by mutations of the UMOD gene, encoding uromodulin Tamm Horsfall protein, the most abundant protein in urine . Uromodulin is a glycoprotein that is exclusively expressed by epithelial tubular cells of the thick ascending limb of Henle's loop and distal convoluted tubule. The majority of the mutations so far reported involve one of the 48 conserved cysteine residues. It has been shown that cysteine-affecting mutations could lead to partial endoplasmic reticulum (ER) retention thus causing defective intracellular trafficking of uromodulin.

Materials and methods:
we have investigated 3 families showing characteristics of the FJHN/MCKD phenotype. In the first two families the diagnosis of FJHN/MCKD was based on the familial occurrence of chronic renal disease associated with or preceded by early onset of hyperuricemia, however in the third family, which there wasn't familial story of chronic renal disease, the diagnosis was based on early onset of hyperuricemia, chronic renal insufficiency, and renal malformations.

Results:
We reported- for the first time- the association of tow novel UMOD mutations (Trp202Arg and Gly131Asp) in the proband of the first family, which was a compound heterozygous for these two mutations. The first mutation was inherited from the mother which was affected of FJHN/MCKD, and the second mutation was inherited from an apparently healthy father, and was fuond in her apparently healthy brother. However UMOD mutations were not fuond in the members of second and third family.

Conclusions:
From the study of these 3 families we have get new insights in the molecular biology of UMOD gene:
1- Double mutant individuals occur in FJHN/MCKD. We identifided , for the first time, the presence of two UMOD mutation in one patient, as compound heterozygous for 2 UMOD mutation.
2- Amino acids substitution not involving Cysteine residues cause ER retention.
3- A non conservative amino acid substitution, that functional behaves as a normal allele, i.e. it is not able to induce ER retention, is not associated with FJHN/MCKD diseases, rather it might be associated with intermediate phenotypes ( reduction of F E uric acid, hypertension).
4- We confirmed that UMOD mutations are not the only cause of the FJHN/MCKD phenotype.

Abstract (italiano)

L’Uromodulina (Tamm-Horsfall protein) è una proteina che si trova normalmente in quantità abbondante nelle urine. Le mutazioni del gene che codifica l’Uromodulina (gene UMOD) sono associate con la Familiar Juvenile Hperuricemic Nefropathy (FJHN) e la Medullary Cystic Kidney Disease tipo 2 (MCKD2), che si manifestano con iperuricemia e gotta, ridotta escrezione frazionaria dell’acido urico, insufficienza renale cronica. L’eta’ di esordio è nell’infanzia per la FJHN, mentre la MCKD2 esordisce attorno ai 30 anni con ridotta concentrazione urinaria, iperuricemia, insufficienza renale cronica e si associa a cisti renali. FJHN/MCKD2 sono malattie autosomiche dominanti, con quadro istologico di nefropatia interstiziale. Alcuni autori le considerano una malattia unica.
La maggior parte delle mutazioni di UMOD descritte in letteratura modificano uno dei 48 residui di cisteina. Queste mutazioni alterano la struttura terziaria causando accumulo intracellulare e conseguente disfunzione tubulare.

Materiali e metodi:
Abbiamo studiato 3 famiglie presentano il fenotipo della sindrome di FJHN/MCKD: nelle due prime famiglie una storia familare con una importante ricorrenza di iperuricemia e IRC, ma nella treza famiglia, nonostante, l'assenza della familiarità per patologia renale, la presenza dell'insufficienza renale e l'iperuricemia, hanno confermato la diagnosi della sindrome di FJHN/MCKD. L’analisi genetica è stata effettuata sulla DNA genoma, e tuuti gli esoni del UMOD gene, e HNF1B gene sono stati sequenziati.

Risultati:
Nella prima famiglia: l’analisi genetica evidenziava la presenza di due mutazioni missenso di UMOD, mai descritte precedentemente. Quindi il probando è eterozigote composto per due mutazioni: l’una UMODc 392 G>A Trp202Arg ereditata dalla madre affetta anch’essa da FJHN, l’altra UMODc 604 T>C Gly131Asp ereditata dal padre e presente anche nel fratello del probando, ambedue (padre e fratello) tuttavia asintomatici per questa malattia. Nella seconda e terza famiglia, non sono stati identificati mutazioni per UMOD gene, neanche per HNF1B gene.

Conclusione: il caso clinico ci permette di acquisire nuove informazioni sulla patologia molecolare di UMOD:
- è possibile trovare due UMOD mutazioni in un paziente affetto dalla sindrome FJHN/MCKD.
-Sostituzione in residui non cisteinici sono in grado di indurre accumulo intracellulare di uromodulina e conseguentemente la nefropatia.
-Varianti aminoacidiche che non causano l’accumulo di uromodulina, non causano la nefropatia ma potrebbero essere associate ad ipertensione, come recentamente evidenziato in altri lavori
scientifici.
- Le mutazioni del UMOD gene non sono l'unica causa della sindrome FJHN/MCKD.

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Tipo di EPrint:Tesi di dottorato
Relatore:ANGLANI, FRANCA
Dottorato (corsi e scuole):Ciclo 22 > Scuole per il 22simo ciclo > SCIENZE MEDICHE, CLINICHE E SPERIMENTALI > SCIENZE NEFROLOGICHE
Data di deposito della tesi:NON SPECIFICATO
Anno di Pubblicazione:09 Agosto 2010
Parole chiave (italiano / inglese):UROMODULIN, FJHN/MCKD
Settori scientifico-disciplinari MIUR:Area 06 - Scienze mediche > MED/14 Nefrologia
Struttura di riferimento:Dipartimenti > Dipartimento di Medicina Clinica e Sperimentale
Codice ID:3182
Depositato il:14 Mar 2011 08:53
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