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Article: Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook.

Melluso, Andrea / Secondulfo, Floriana / Capolongo, Giovanna / Capasso, Giovambattista / Zacchia, Miriam

Therapeutics and clinical risk management

2023 Volume 19, Page(s) 115–132

Abstract: The Bardet Biedl syndrome (BBS) is a rare inherited disorder considered a model of non-motile ciliopathy. It is in fact caused by mutations of genes encoding for proteins mainly localized to the base of the cilium. Clinical features of BBS patients are ... ...

Abstract	The Bardet Biedl syndrome (BBS) is a rare inherited disorder considered a model of non-motile ciliopathy. It is in fact caused by mutations of genes encoding for proteins mainly localized to the base of the cilium. Clinical features of BBS patients are widely shared with patients suffering from other ciliopathies, especially autosomal recessive syndromic disorders; moreover, mutations in cilia-related genes can cause different clinical ciliopathy entities. Besides the best-known clinical features, as retinal degeneration, learning disabilities, polydactyly, obesity and renal defects, several additional clinical signs have been reported in BBS, expanding our understanding of the complexity of its clinical spectrum. The present review aims to describe the current knowledge of BBS i) pathophysiology, ii) clinical manifestations, highlighting both the most common and the less described features, iii) current and future perspective for treatment.
Language	English
Publishing date	2023-01-30
Publishing country	New Zealand
Document type	Journal Article ; Review
ZDB-ID	2186560-7
ISSN	1178-203X ; 1176-6336
ISSN (online)	1178-203X
ISSN	1176-6336
DOI	10.2147/TCRM.S338653
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Zs.A 6067: Show issues

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Article ; Online: Computational and Structural Analysis to Assess the Pathogenicity of Bardet-Biedl Syndrome Related Missense Variants Identified in Bardet-Biedl Syndrome 10 Gene (BBS10).

Gupta, Neha / Khan, Mudassar Ali / Capasso, Giovambattista / Zacchia, Miriam

ACS omega

2022 Volume 7, Issue 42, Page(s) 37654–37662

Abstract: Bardet-Biedl Syndrome (BBS) is a rare inherited disorder resulting in multiple organ dysfunctions, whose cardinal clinical features include cognitive impairment, obesity, and renal dysfunction. Although it is highly heterogeneous at genetic levels, ...

Abstract	Bardet-Biedl Syndrome (BBS) is a rare inherited disorder resulting in multiple organ dysfunctions, whose cardinal clinical features include cognitive impairment, obesity, and renal dysfunction. Although it is highly heterogeneous at genetic levels,
Language	English
Publishing date	2022-10-12
Publishing country	United States
Document type	Journal Article
ISSN	2470-1343
ISSN (online)	2470-1343
DOI	10.1021/acsomega.2c04522
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Article ; Online: Renal cystinuria and immune cells (T lymphocytes) dysfunction, what we know about?

Caprio, Francesca / Orefice, Giuseppe / Secondulfo, Floriana / Carone Fabiani, Filippo / Iervolino, Anna / Capasso, Giovambattista / Simeoni, Mariadelina / Zacchia, Miriam / Trepiccione, Francesco / Capolongo, Giovanna

Nephron

2024

Abstract: Cystinuria (CYS) is the most common monogenic kidney stone disease. Starting from an unusual case of CYS associated to Primary Sclerosing Cholangitis, inflammatory bowel disease (IBD) and autoimmune hepatitis in a young male, we carefully review the ... ...

Abstract	Cystinuria (CYS) is the most common monogenic kidney stone disease. Starting from an unusual case of CYS associated to Primary Sclerosing Cholangitis, inflammatory bowel disease (IBD) and autoimmune hepatitis in a young male, we carefully review the literature and propose here a working hypothesis regarding the potential risk of cystinuric patients to develop conditions due to immune system dysregulation. To corroborate this hypothesis, we retrospectively evaluate the frequency of dysimmunity in a cohort of cystinuric patients compared to healthy and disease controls. Further studies are needed to define the relationship between proximal tubular transport defect of CYS and dysregulated immunity.
Language	English
Publishing date	2024-04-24
Publishing country	Switzerland
Document type	News
ZDB-ID	207121-6
ISSN	2235-3186 ; 1423-0186 ; 1660-8151 ; 0028-2766
ISSN (online)	2235-3186 ; 1423-0186
ISSN	1660-8151 ; 0028-2766
DOI	10.1159/000538213
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Article ; Online: Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins.

Gupta, Neha / D'Acierno, Mariavittoria / Zona, Enrica / Capasso, Giovambattista / Zacchia, Miriam

American journal of medical genetics. Part C, Seminars in medical genetics

2022 Volume 190, Issue 1, Page(s) 9–19

Abstract: Bardet-Biedl syndrome (BBS) is a rare pleiotropic disorder known as a ciliopathy. Despite significant genetic heterogeneity, BBS1 and BBS10 are responsible for major diagnosis in western countries. It is well established that eight BBS proteins, namely ... ...

Abstract	Bardet-Biedl syndrome (BBS) is a rare pleiotropic disorder known as a ciliopathy. Despite significant genetic heterogeneity, BBS1 and BBS10 are responsible for major diagnosis in western countries. It is well established that eight BBS proteins, namely BBS1, 2, 4, 5, 7, 8, 9, and 18, form the BBSome, a multiprotein complex serving as a regulator of ciliary membrane protein composition. Less information is available for BBS6, BBS10, and BBS12, three proteins showing sequence homology with the CCT/TRiC family of group II chaperonins. Even though their chaperonin function is debated, scientific evidence demonstrated that they are required for initial BBSome assembly in vitro. Recent studies suggest that genotype may partially predict clinical outcomes. Indeed, patients carrying truncating mutations in any gene show the most severe phenotype; moreover, mutations in chaperonin-like BBS proteins correlated with severe kidney impairment. This study is a critical review of the literature on genetics, expression level, cellular localization and function of BBS proteins, focusing primarily on the chaperonin-like BBS proteins, and aiming to provide some clues to understand the pathomechanisms of disease in this setting.
MeSH term(s)	Bardet-Biedl Syndrome/genetics ; Bardet-Biedl Syndrome/metabolism ; Chaperonins/genetics ; Chaperonins/metabolism ; Group II Chaperonins/genetics ; Group II Chaperonins/metabolism ; Humans ; Mutation
Chemical Substances	BBS10 protein, human ; BBS12 protein, human ; MKKS protein, human ; Chaperonins (EC 3.6.1.-) ; Group II Chaperonins (EC 3.6.1.-)
Language	English
Publishing date	2022-04-04
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2108622-9
ISSN	1552-4876 ; 0148-7299 ; 1552-4868
ISSN (online)	1552-4876
ISSN	0148-7299 ; 1552-4868
DOI	10.1002/ajmg.c.31970
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Zs.A 1376/C: Show issues

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Article ; Online: Cyclosporin-induced hypertension is associated with the up-regulation of Na+-K+-2Cl- cotransporter (NKCC2).

Capolongo, Giovanna / Damiano, Sara / Suzumoto, Yoko / Zacchia, Miriam / Rizzo, Maria / Zona, Enrica / Pollastro, Rosa Maria / Simeoni, Mariadelina / Ciarcia, Roberto / Trepiccione, Francesco / Capasso, Giovambattista

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

2024 Volume 39, Issue 2, Page(s) 297–304

Abstract: Background: The use of cyclosporin A (CsA) is hampered by the development of nephrotoxicity including hypertension, which is partially dependent on renal sodium retention. To address this issue, we have investigated in vivo sodium reabsorption in ... ...

Abstract	Background: The use of cyclosporin A (CsA) is hampered by the development of nephrotoxicity including hypertension, which is partially dependent on renal sodium retention. To address this issue, we have investigated in vivo sodium reabsorption in different nephron segments of CsA-treated rats through micropuncture study coupled to expression analyses of sodium transporters. To translate the findings in rats to human, kidney-transplanted patients having CsA treatment were enrolled in the study. Methods: Adult male Sprague-Dawley rats were treated with CsA (15 mg/kg/day) for 21 days, followed by micropuncture study and expression analyses of sodium transporters. CsA-treated kidney-transplanted patients with resistant hypertension were challenged with 50 mg furosemide. Results: CsA-treated rats developed hypertension associated with reduced glomerular filtration rate. In vivo microperfusion study demonstrated a significant decrease in rate of absolute fluid reabsorption in the proximal tubule but enhanced sodium reabsorption in the thick ascending limb of Henle's loop (TAL). Expression analyses of sodium transporters at the same nephron segments further revealed a reduction in Na+-H+ exchanger isoform 3 (NHE3) in the renal cortex, while TAL-specific, furosemide-sensitive Na+-K+-2Cl- cotransporter (NKCC2) and NHE3 were significantly upregulated in the inner stripe of outer medulla. CsA-treated patients had a larger excretion of urinary NKCC2 protein at basal condition, and higher diuretic response to furosemide, showing increased FeNa+, FeCl- and FeCa2+ compared with both healthy controls and FK506-treated transplanted patients. Conclusion: Altogether, these findings suggest that up-regulation of NKCC2 along the TAL facilitates sodium retention and contributes to the development of CsA-induced hypertension.
MeSH term(s)	Adult ; Humans ; Male ; Rats ; Animals ; Cyclosporine/adverse effects ; Sodium-Hydrogen Exchanger 3/metabolism ; Up-Regulation ; Furosemide ; Rats, Sprague-Dawley ; Hypertension/chemically induced ; Hypertension/metabolism ; Sodium/metabolism ; Solute Carrier Family 12, Member 1/metabolism
Chemical Substances	Cyclosporine (83HN0GTJ6D) ; Sodium-Hydrogen Exchanger 3 ; Furosemide (7LXU5N7ZO5) ; Sodium (9NEZ333N27) ; Solute Carrier Family 12, Member 1
Language	English
Publishing date	2024-01-22
Publishing country	England
Document type	Journal Article
ZDB-ID	90594-x
ISSN	1460-2385 ; 0931-0509
ISSN (online)	1460-2385
ISSN	0931-0509
DOI	10.1093/ndt/gfad161
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Zs.A 2198: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Exploring Key Challenges of Understanding the Pathogenesis of Kidney Disease in Bardet-Biedl Syndrome.

Marchese, Emanuela / Ruoppolo, Margherita / Perna, Alessandra / Capasso, Giovambattista / Zacchia, Miriam

Kidney international reports

2020 Volume 5, Issue 9, Page(s) 1403–1415

Abstract: Bardet-Biedl syndrome (BBS) is a rare pleiotropic inherited disorder known as a ciliopathy. Kidney disease is a cardinal clinical feature; however, it is one of the less investigated traits. This study is a comprehensive analysis of the literature aiming ...

Abstract	Bardet-Biedl syndrome (BBS) is a rare pleiotropic inherited disorder known as a ciliopathy. Kidney disease is a cardinal clinical feature; however, it is one of the less investigated traits. This study is a comprehensive analysis of the literature aiming to collect available information providing mechanistic insights into the pathogenesis of kidney disease by analyzing clinical and basic science studies focused on this issue. The analysis revealed that the syndrome is either clinically and genetically heterogenous, with 24 genes discovered to date, but with 3 genes (
Language	English
Publishing date	2020-06-29
Publishing country	United States
Document type	Journal Article ; Review
ISSN	2468-0249
ISSN (online)	2468-0249
DOI	10.1016/j.ekir.2020.06.017
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Article ; Online: Acute and chronic effects of metabolic acidosis on renal function and structure.

Tammaro, Gennaro / Zacchia, Miriam / Zona, Enrica / Zacchia, Enza / Capasso, Giovambattista

Journal of nephrology

2018 Volume 31, Issue 4, Page(s) 551–559

Abstract: Background: Emerging evidence suggests that chronic metabolic acidosis (CMA) may have significant implications in terms of worsening renal disease in CKD patients, but the effect of CMA on renal function and structure has not been fully elucidated.: ... ...

Abstract	Background: Emerging evidence suggests that chronic metabolic acidosis (CMA) may have significant implications in terms of worsening renal disease in CKD patients, but the effect of CMA on renal function and structure has not been fully elucidated. Method: We studied the acute and chronic consequences of an acid load (AL) on glomerular filtration rate (GFR) and renal histology in C57BL/6 mice. FITC-inulin clearance was performed at several time points; markers of renal fibrosis were studied at mRNA and protein levels; finally, kidney expression of candidate molecules triggering changes in renal function was studied. Results: Glomerular hyperfiltration occurred within 1-3 days from AL; after 1 week, the GFR returned to baseline and then declined progressively within 15-21 days. The GFR decline was accompanied by the onset of renal fibrosis, as shown by Masson trichrome staining. Markers of renal fibrosis, namely α-smooth muscle actin and collagen-1, increased after 1 day of acid loading in both mRNA and protein levels and remained higher than baseline for up to 21 days. Well-known mediators of renal fibrosis, including transforming growth factor (TGF)-β and the intrarenal renin-angiotensin system (RAS) axis, were increased even before the decline of the GFR. Conclusion: Acid load caused hyperfiltration acutely and a progressive decline of the GFR chronically; the evidence of renal fibrosis indicates that structural and not only functional renal changes occurred. The concomitant upregulation of TGF-β and intrarenal RAS axis indicates that those factors may be potentially involved in the progression of kidney disease in this setting.
MeSH term(s)	Acidosis/chemically induced ; Acidosis/complications ; Actins/genetics ; Actins/metabolism ; Ammonium Chloride ; Angiotensinogen/genetics ; Animals ; Chronic Disease ; Collagen Type I/genetics ; Collagen Type I/metabolism ; Disease Progression ; Fibrosis ; Gene Expression ; Glomerular Filtration Rate ; Hydrochloric Acid ; Kidney/pathology ; Male ; Mice, Inbred C57BL ; RNA, Messenger/metabolism ; Renal Insufficiency, Chronic/etiology ; Renal Insufficiency, Chronic/pathology ; Renal Insufficiency, Chronic/physiopathology ; Renin/genetics ; Renin-Angiotensin System ; Transforming Growth Factor beta/genetics
Chemical Substances	Actins ; Collagen Type I ; RNA, Messenger ; Transforming Growth Factor beta ; alpha-smooth muscle actin, mouse ; Ammonium Chloride (01Q9PC255D) ; Angiotensinogen (11002-13-4) ; Renin (EC 3.4.23.15) ; Hydrochloric Acid (QTT17582CB)
Language	English
Publishing date	2018-04-26
Publishing country	Italy
Document type	Journal Article
ZDB-ID	1093991-x
ISSN	1724-6059 ; 1120-3625 ; 1121-8428
ISSN (online)	1724-6059
ISSN	1120-3625 ; 1121-8428
DOI	10.1007/s40620-018-0493-3
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Zs.A 3369: Show issues

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Article ; Online: Diffusion tensor imaging for the study of early renal dysfunction in patients affected by bardet-biedl syndrome.

Borrelli, Pasquale / Zacchia, Miriam / Cavaliere, Carlo / Basso, Luca / Salvatore, Marco / Capasso, Giovambattista / Aiello, Marco

Scientific reports

2021 Volume 11, Issue 1, Page(s) 20855

Abstract: Kidney structural abnormalities are common features of Bardet-Biedl syndrome (BBS) patients that lead to a progressive decline in renal function. Magnetic resonance diffusion tensor imaging (DTI) provides useful information on renal microstructures but ... ...

Abstract	Kidney structural abnormalities are common features of Bardet-Biedl syndrome (BBS) patients that lead to a progressive decline in renal function. Magnetic resonance diffusion tensor imaging (DTI) provides useful information on renal microstructures but it has not been applied to these patients. This study investigated using DTI to detect renal abnormalities in BBS patients with no overt renal dysfunction. Ten BBS subjects with estimated glomerular filtration rates over 60 ml/min/1.73m
MeSH term(s)	Adult ; Bardet-Biedl Syndrome/complications ; Bardet-Biedl Syndrome/diagnostic imaging ; Diffusion Tensor Imaging ; Female ; Glomerular Filtration Rate ; Humans ; Kidney/diagnostic imaging ; Male ; Renal Insufficiency, Chronic/diagnostic imaging ; Renal Insufficiency, Chronic/etiology ; Young Adult
Language	English
Publishing date	2021-10-21
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-021-00394-4
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Article: The importance of the thick ascending limb of Henle's loop in renal physiology and pathophysiology.

Zacchia, Miriam / Capolongo, Giovanna / Rinaldi, Luca / Capasso, Giovambattista

International journal of nephrology and renovascular disease

2018 Volume 11, Page(s) 81–92

Abstract: The thick ascending limb (TAL) of Henle's loop is a crucial segment for many tasks of the nephron. Indeed, the TAL is not only a mainstay for reabsorption of sodium ( ... ...

Abstract	The thick ascending limb (TAL) of Henle's loop is a crucial segment for many tasks of the nephron. Indeed, the TAL is not only a mainstay for reabsorption of sodium (Na
Language	English
Publishing date	2018-02-15
Publishing country	New Zealand
Document type	Journal Article ; Review
ZDB-ID	2508160-3
ISSN	1178-7058
ISSN	1178-7058
DOI	10.2147/IJNRD.S154000
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Article ; Online: The importance of uromodulin as regulator of salt reabsorption along the thick ascending limb.

Zacchia, Miriam / Capasso, Giovambattista

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

2015 Volume 30, Issue 2, Page(s) 158–160

MeSH term(s)	Diuretics/therapeutic use ; Female ; Furosemide/therapeutic use ; Humans ; Kidney Diseases/drug therapy ; Kidney Diseases/genetics ; Male ; Mutation/genetics ; Uromodulin/genetics
Chemical Substances	Diuretics ; Uromodulin ; Furosemide (7LXU5N7ZO5)
Language	English
Publishing date	2015-02
Publishing country	England
Document type	Comment ; Journal Article
ZDB-ID	90594-x
ISSN	1460-2385 ; 0931-0509
ISSN (online)	1460-2385
ISSN	0931-0509
DOI	10.1093/ndt/gfu365
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Zs.MO 329: Show issues

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