BSND
{{Short description|Protein-coding gene in the species Homo sapiens}}
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{{Infobox gene}}
Bartter syndrome, infantile, with sensorineural deafness (Barttin), also known as BSND, is a human gene which is associated with Bartter syndrome.{{cite web | title = BSND barttin CLCNK type accessory subunit beta [ Homo sapiens (human) ] | url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7809 }}
This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules in the kidney and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness.
BSND as a Diagnostic Marker
BSND is a key diagnostic marker in differentiating the chromophobe renal cell carcinoma (chRCC) from other types of RCC. chRCC is a type of kidney cancer that presents in the cell lining of the small tubules in the kidney.{{Cite journal |last=Meskawi M, Sun M, Ismail S, Bianchi M, Hansen J, Tian Z, Hanna N, Trinh QD, Graefen M, Montorsi F, Perrotte P, Karakiewicz PI |date=August 2013 |title=Fuhrman grade [corrected] has no added value in prediction of mortality after partial or [corrected] radical nephrectomy for chromophobe renal cell carcinoma patients |url=https://pubmed.ncbi.nlm.nih.gov/23370773/ |journal=Modern Pathology |volume=26 |issue=8 |pages=1144–1149 |doi=10.1038/modpathol.2012.230 |pmid=23370773 |via=PubMed}} RNA-sequence data from The Cancer Genome Atlas revealed that BSND was one of three genes (alongside ATP6V1G3) with high RNA expression in chRCC. Strong, diffuse expression of BSND was observed in chRCC but not in clear cell RCC or papillary RCC. Additionally, BSND expression was found to correlate with lower DNA methylation near the transcription start site, indicating the presence of epigenetic regulation. This expression reveals BSND's potential to serve as a major immunohistochemical marker for distinguishing chRCC from other forms of RCC.{{Cite journal |date=Jun 19, 2015 |title=BSND and ATP6V1G3: Novel Immunohistochemical Markers for Chromophobe Renal Cell Carcinoma |url=https://doi.org/10.1097/MD.0000000000000989 |journal=Medicine (Baltimore) |volume=94 |issue=24 |pages=e989 |doi=10.1097/MD.0000000000000989 |pmid=26091477 |via=PubMed Central |pmc=4616546 | vauthors = Shinmura K, Igarashi H, Kato H, Koda K, Ogawa H, Takahashi S, Otsuki Y, Yoneda T, Kawanishi Y, Funai K, Takayama T, Ozono S, Sugimura H }}
BSND immunohistochemistry is also pivotal in differentiating oncocytic and Warthin-like MECs in salivary gland neoplasms. Greater than 10% BSND positivity helps distinguish Warthin tumors from Warthin-like MECs and greater than 20% BSND positivity helps distinguish oncocytomas from oncocytic MECs.{{Cite journal |date=November 26, 2024 |title=The Utility of BSND Immunohistochemistry in the Differential Diagnosis of Oncocytic and Warthin-like Mucoepidermoid Carcinoma of Salivary Gland |url=https://doi.org/10.1007/s12105-024-01728-0 |journal=Head and Neck Pathology |volume=18 |issue=123 |doi=10.1007/s12105-024-01728-0 |via=Springer Nature |page=123 |pmid=39589616 |pmc=11599517 |pmc-embargo-date=November 26, 2025 | vauthors = Xu B, Jungbluth A, Frosina D, Alabkaa A, Serrette R, Qin H, Roy D, Ghossein R, Katabi N }}
References
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Further reading
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- {{cite journal | vauthors = Birkenhager R, Otto E, Schurmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, Beekmann F, Fekete A, Omran H, Feldmann D, Milford DV, Jeck N, Konrad M, Landau D, Knoers NV, Antignac C, Sudbrak R, Kispert A, Hildebrandt F | title = Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. | journal = Nature Genetics | volume = 29 | issue = 3 | pages = 310–314 | date = Nov 2001 | pmid = 11687798 | doi = 10.1038/ng752 | s2cid = 5892001 }}
- {{cite journal | vauthors = Estevez R, Boettger T, Stein V, Birkenhager R, Otto E, Hildebrandt F, Jentsch TJ | title = Barttin is a Cl− channel beta-subunit crucial for renal Cl− reabsorption and inner ear K+ secretion. | journal = Nature | volume = 414 | issue = 6863 | pages = 558–561 | date = Nov 2001 | pmid = 11734858 | doi = 10.1038/35107099 | bibcode = 2001Natur.414..558E | s2cid = 4407807 }}
- {{cite journal | vauthors = Waldegger S, Jeck N, Barth P, Peters M, Vitzthum H, Wolf K, Kurtz A, Konrad M, Seyberth HW | title = Barttin increases surface expression and changes current properties of ClC-K channels. | journal = Pflugers Archiv: European Journal of Physiology | volume = 444 | issue = 3 | pages = 411–418 | date = Jun 2002 | pmid = 12111250 | doi = 10.1007/s00424-002-0819-8 | s2cid = 8546107 }}
- {{cite journal | vauthors = Miyamura N, Matsumoto K, Taguchi T, Tokunaga H, Nishikawa T, Nishida K, Toyonaga T, Sakakida M, Araki E | title = Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin. | journal = The Journal of Clinical Endocrinology and Metabolism | volume = 88 | issue = 2 | pages = 781–786 | date = Feb 2003 | pmid = 12574213 | doi = 10.1210/jc.2002-021398 | s2cid = 28041186 }}
- {{cite journal | vauthors = Hayama A, Rai T, Sasaki S, Uchida S | title = Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene. | journal = Histochemistry and Cell Biology | volume = 119 | issue = 6 | pages = 485–493 | date = Jun 2003 | pmid = 12761627 | doi = 10.1007/s00418-003-0535-2 | s2cid = 24080298 }}
- {{cite journal | vauthors = Embark HM, Bohmer C, Palmada M, Rajamanickam J, Wyatt AW, Wallisch S, Capasso G, Waldegger P, Seyberth HW, Waldegger S, Lang F | title = Regulation of CLC-Ka/barttin by the ubiquitin ligase Nedd4-2 and the serum- and glucocorticoid-dependent kinases. | journal = Kidney International | volume = 66 | issue = 5 | pages = 1918–1925 | date = Nov 2004 | pmid = 15496163 | doi = 10.1111/j.1523-1755.2004.00966.x | doi-access = free }}
- {{cite journal | vauthors = Garcia-Nieto V, Flores C, Luis-Yanes MI, Gallego E, Villar J, Claverie-Martin F | title = Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families. | journal = Pediatric Nephrology | location = Berlin, Germany | volume = 21 | issue = 5 | pages = 643–648 | date = May 2006 | pmid = 16572343 | doi = 10.1007/s00467-006-0062-1 | s2cid = 24786634 }}
- {{cite journal | vauthors = Ozlu F, Yapicioglu H, Satar M, Narli N, Ozcan K, Buyukcelik M, Konrad M, Demirhan O | title = Barttin mutations in antenatal Bartter syndrome with sensorineural deafness. | journal = Pediatric Nephrology | location = Berlin, Germany | volume = 21 | issue = 7 | pages = 1056–1057 | date = Jul 2006 | pmid = 16773427 | doi = 10.1007/s00467-006-0108-4 | s2cid = 13158377 | url = https://boris.unibe.ch/20925/ }}
- {{cite journal | vauthors = Scholl U, Hebeisen S, Janssen AG, Muller-Newen G, Alekov A, Fahlke C | title = Barttin modulates trafficking and function of ClC-K channels. | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 103 | issue = 30 | pages = 11411–11416 | date = Jul 2006 | pmid = 16849430 | pmc = 1544099 | doi = 10.1073/pnas.0601631103 | bibcode = 2006PNAS..10311411S | doi-access = free }}
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External links
- {{UCSC gene info|BSND}}
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