Bartter syndrome, infantile, with sensorineural deafness (Barttin), also known as BSND, is a human gene which is associated with Bartter syndrome.[5]
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.[5]
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.[6] 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.[7]
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.[8]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000162399 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025418 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "BSND barttin CLCNK type accessory subunit beta [ Homo sapiens (human) ]".
- ^ Meskawi M, Sun M, Ismail S, Bianchi M, Hansen J, Tian Z, Hanna N, Trinh QD, Graefen M, Montorsi F, Perrotte P, Karakiewicz PI (August 2013). "Fuhrman grade [corrected] has no added value in prediction of mortality after partial or [corrected] radical nephrectomy for chromophobe renal cell carcinoma patients". Modern Pathology. 26 (8): 1144–1149. doi:10.1038/modpathol.2012.230. PMID 23370773 – via PubMed.
{{cite journal}}: CS1 maint: multiple names: authors list (link)
- ^ Shinmura K, Igarashi H, Kato H, Koda K, Ogawa H, Takahashi S, et al. (Jun 19, 2015). "BSND and ATP6V1G3: Novel Immunohistochemical Markers for Chromophobe Renal Cell Carcinoma". Medicine (Baltimore). 94 (24): e989. doi:10.1097/MD.0000000000000989. PMC 4616546. PMID 26091477 – via PubMed Central.
- ^ Xu B, Jungbluth A, Frosina D, Alabkaa A, Serrette R, Qin H, et al. (November 26, 2024). "The Utility of BSND Immunohistochemistry in the Differential Diagnosis of Oncocytic and Warthin-like Mucoepidermoid Carcinoma of Salivary Gland". Head and Neck Pathology. 18 (123): 123. doi:10.1007/s12105-024-01728-0. PMC 11599517. PMID 39589616 – via Springer Nature.
Further reading
- Birkenhager R, Otto E, Schurmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, et al. (Nov 2001). "Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure". Nature Genetics. 29 (3): 310–314. doi:10.1038/ng752. PMID 11687798. S2CID 5892001.
- Estevez R, Boettger T, Stein V, Birkenhager R, Otto E, Hildebrandt F, et al. (Nov 2001). "Barttin is a Cl− channel beta-subunit crucial for renal Cl− reabsorption and inner ear K+ secretion". Nature. 414 (6863): 558–561. Bibcode:2001Natur.414..558E. doi:10.1038/35107099. PMID 11734858. S2CID 4407807.
- Waldegger S, Jeck N, Barth P, Peters M, Vitzthum H, Wolf K, et al. (Jun 2002). "Barttin increases surface expression and changes current properties of ClC-K channels". Pflugers Archiv: European Journal of Physiology. 444 (3): 411–418. doi:10.1007/s00424-002-0819-8. PMID 12111250. S2CID 8546107.
- Miyamura N, Matsumoto K, Taguchi T, Tokunaga H, Nishikawa T, Nishida K, et al. (Feb 2003). "Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin". The Journal of Clinical Endocrinology and Metabolism. 88 (2): 781–786. doi:10.1210/jc.2002-021398. PMID 12574213. S2CID 28041186.
- Hayama A, Rai T, Sasaki S, Uchida S (Jun 2003). "Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene". Histochemistry and Cell Biology. 119 (6): 485–493. doi:10.1007/s00418-003-0535-2. PMID 12761627. S2CID 24080298.
- Embark HM, Bohmer C, Palmada M, Rajamanickam J, Wyatt AW, Wallisch S, et al. (Nov 2004). "Regulation of CLC-Ka/barttin by the ubiquitin ligase Nedd4-2 and the serum- and glucocorticoid-dependent kinases". Kidney International. 66 (5): 1918–1925. doi:10.1111/j.1523-1755.2004.00966.x. PMID 15496163.
- Garcia-Nieto V, Flores C, Luis-Yanes MI, Gallego E, Villar J, Claverie-Martin F (May 2006). "Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families". Pediatric Nephrology. 21 (5). Berlin, Germany: 643–648. doi:10.1007/s00467-006-0062-1. PMID 16572343. S2CID 24786634.
- Ozlu F, Yapicioglu H, Satar M, Narli N, Ozcan K, Buyukcelik M, et al. (Jul 2006). "Barttin mutations in antenatal Bartter syndrome with sensorineural deafness". Pediatric Nephrology. 21 (7). Berlin, Germany: 1056–1057. doi:10.1007/s00467-006-0108-4. PMID 16773427. S2CID 13158377.
- Scholl U, Hebeisen S, Janssen AG, Muller-Newen G, Alekov A, Fahlke C (Jul 2006). "Barttin modulates trafficking and function of ClC-K channels". Proceedings of the National Academy of Sciences of the United States of America. 103 (30): 11411–11416. Bibcode:2006PNAS..10311411S. doi:10.1073/pnas.0601631103. PMC 1544099. PMID 16849430.
External links