Document Type : Original Article
Authors
- Haider Majid Haider Al-Zaidi 1
- Fatemehsadat Mousavinasab 2
- Nika Radseresht 3
- Ali Reza Mirzaei 4
- Yasaman Moradi 3
- Mohammad Mahmoudifar 3
1 Department of Otolaryngology and Skull Base Surgeon, College of Medicine, Ibn Sina University of Medical and Pharmaceutical Sciences, Baghdad, Iraq
2 Institute for Biomedical Sciences, Georgia State University, Atlanta, GA, USA
3 Department of Orthopaedic Dentistry, A. I. Evdokimov Moscow State University of Medicine and Dentistry, Moscow, Russia
4 Department of Agronomy and Plant Breeding, Faculty of Agriculture and Natural Resources, University of Mohaghegh Ardabili, Ardabil, Iran
Abstract
Deafness can occur due to damage to the ear, especially the inner ear. In other cases, the cause is a heterogeneous genetic abnormality and is caused by the changes that occur in the genes involved in the hearing process. Mutations in GJB2 and SLC26A4 genes are one of the most important causes of deafness in the world, which causes syndromic and non-syndromic hereditary hearing loss. The purpose of this study is to investigate GJB2 and SLC26A4 genes related to genetic syndromes of deafness and bioinformatic analysis at the genome and proteome level and to evaluate and compare the expression of these genes in different tissues of the human body. For this purpose, tools related to bioinformatics analysis such as UCSC and OMIM databases were used. One of the common genetic syndromes caused by mutations in these genes is pendred syndrome. The clinical symptoms of this disease are weight gain, constipation, dry skin, and hair, decreased energy, sleepiness, bulging belly, decreased body temperature, and slow growth. This disease does not currently have a specific treatment, so it is very important and fundamental to investigate the genetic factors affecting this disease. The results of this research showed that the transfer of potassium, sodium, and chlorine ions as well as the mutation in the SLC26A4 gene, which is responsible for the synthesis of pendrin protein, is very effective in the occurrence of pendred syndrome. To diagnose pendred syndrome more accurately, molecular methods should be used in genetic tests. The results of comparing the expression profiles of these two genes showed that the difference in the expression of these two genes is very high and, in general, the expression of the SLC26A4 gene in the body is very low. Because people with hearing loss have other problems including damage to other parts of the body such as the heart, kidneys, or eyes. Knowing the genetic cause in these cases allows the doctor to be aware of problems in other systems as well.
Graphical Abstract
)
Keywords
Main Subjects
Selected author of this article by journal
Ibn Sina university of Medical and Pharmaceutical Sciences
ORCID
Google Scholar
Open Access
This article is licensed under a CC BY License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit: http://creativecommons.org/licenses/by/4.0/
Publisher’s Note
CMBR journal remains neutral with regard to jurisdictional claims in published maps and institutional afflictions.
Letters to Editor
Given that CMBR Journal's policy in accepting articles will be strict and will do its best to ensure that in addition to having the highest quality published articles, the published articles should have the least similarity (maximum 15%). Also, all the figures and tables in the article must be original and the copyright permission of images must be prepared by authors. However, some articles may have flaws and have passed the journal filter, which dear authors may find fault with. Therefore, the editor of the journal asks the authors, if they see an error in the published articles of the journal, to email the article information along with the documents to the journal office.
CMBR Journal welcomes letters to the editor ([email protected], [email protected]) for the post-publication discussions and corrections which allows debate post publication on its site, through the Letters to Editor. Critical letters can be sent to the journal editor as soon as the article is online. Following points are to be considering before sending the letters (comments) to the editor.
[1] Letters that include statements of statistics, facts, research, or theories should include appropriate references, although more than three are discouraged.
[2] Letters that are personal attacks on an author rather than thoughtful criticism of the author’s ideas will not be considered for publication.
[3] There is no limit to the number of words in a letter.
[4] Letter writers should include a statement at the beginning of the letter stating that it is being submitted either for publication or not.
[5] Anonymous letters will not be considered.
[6] Letter writers must include Name, Email Address, Affiliation, mobile phone number, and Comments.
[7] Letters will be answered as soon as possible.
- Hasnain MJU, Shoaib M, Qadri S, Afzal B, Anwar T, Abbas SH, Sarwar A, Talha Malik HM, Tariq Pervez M (2020) Computational analysis of functional single nucleotide polymorphisms associated with SLC26A4 gene. PLoS One 15 (1): e0225368. doi: https://doi.org/10.1371/journal.pone.0225368
- Kusano Y (2020) Pendred syndrome with hyperthyroidism. Journal of rural medicine : JRM 15 (4): 217-220. doi: https://doi.org/10.2185/jrm.2020-011
- Lu YT, Wang L, Hou LL, Zheng PP, Xu Q, Deng DT (2022) SLC26A4 mutation in Pendred syndrome with hypokalemia: A case report. Medicine (Baltimore) 101 (35): e30253. doi: https://doi.org/10.1097/md.0000000000030253
- Nonose RW, Lezirovitz K, de Mello Auricchio MTB, Batissoco AC, Yamamoto GL, Mingroni-Netto RC (2018) Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects. BMC medical genetics 19 (1): 73. doi: https://doi.org/10.1186/s12881-018-0585-x
- Dossena S, Rodighiero S, Vezzoli V, Nofziger C, Salvioni E, Boccazzi M, Grabmayer E, Bottà G, Meyer G, Fugazzola L (2009) Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome. Journal of molecular endocrinology 43 (3): 93-103. doi: https://doi.org/10.1677/JME-08-0175
- Matulevicius A, Bernardinelli E, Brownstein Z, Roesch S, Avraham KB, Dossena S (2022) Molecular Features of SLC26A4 Common Variant p.L117F. J Clin Med 11 (19). doi: https://doi.org/10.3390/jcm11195549
- Zhu K, Jin Y (2022) Case report: A case of SLC26A4 mutations causing pendred syndrome and non-cystic fibrosis bronchiectasis. Front Pediatr 10: 1077878. doi: https://doi.org/10.3389/fped.2022.1077878
- Hilgert N, Smith RJ, Van Camp G (2009) Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutation Research/Reviews in Mutation Research 681 (2-3): 189-196. doi: https://doi.org/10.1016/j.mrrev.2008.08.002
- Abtahi SHR, Malekzadeh A, Soheilipour S, Salehi M, Taleban R, Rabieian R, Moafi M (2019) Evaluation of GJB2 and GJB6 mutations in patients afflicted with non-syndromic hearing loss. International Journal of Pediatrics-Mashhad 7 (2): 9053-9060. doi: https://doi.org/10.22038/ijp.2018.34154.3017
- Rabionet R, Gasparini P, Estivill X (2000) Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins. Human mutation 16 (3): 190-202. doi: https://doi.org/10.1002/1098-1004(200009)16:3<190::AID-HUMU2>3.0.CO;2-I
- Valdebenito S, Barreto A, Eugenin EA (2018) The role of connexin and pannexin containing channels in the innate and acquired immune response. Biochimica et Biophysica Acta (BBA)-Biomembranes 1860 (1): 154-165. doi: https://doi.org/10.1016/j.bbamem.2017.05.015
- Meşe G, Londin E, Mui R, Brink PR, White TW (2004) Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss. Human genetics 115: 191-199. doi: https://doi.org/10.1007/s00439-004-1142-6.
- Elias LA, Wang DD, Kriegstein AR (2007) Gap junction adhesion is necessary for radial migration in the neocortex. Nature 448 (7156): 901-907. doi: https://doi.org/10.1038/nature06063
- Wilch E, Azaiez H, Fisher RA, Elfenbein J, Murgia A, Birkenhäger R, Bolz H, Da Silva‐Costa S, Del Castillo I, Haaf T (2010) A novel DFNB1 deletion allele supports the existence of a distant cis‐regulatory region that controls GJB2 and GJB6 expression. Clinical genetics 78 (3): 267-274. doi: https://doi.org/10.1111/j.1399-0004.2010.01387.x
- Wilson G, Bryan J, Cranston K, Kitzes J, Nederbragt L, Teal TK (2017) Good enough practices in scientific computing. PLoS computational biology 13 (6): e1005510. doi: https://doi.org/10.1371/journal.pcbi.1005510
- Appenzeller-Herzog C, Hauri H-P (2006) The ER-Golgi intermediate compartment (ERGIC): in search of its identity and function. Journal of cell science 119 (11): 2173-2183. doi: https://doi.org/10.1242/jcs.03019
- Abascal F, Zardoya R (2013) Evolutionary analyses of gap junction protein families. Biochimica et Biophysica Acta (BBA)-Biomembranes 1828 (1): 4-14. doi: https://doi.org/10.1016/j.bbamem.2012.02.007
- Kelsell DP, Dunlop J, Hodgins MB (2001) Human diseases: clues to cracking the connexin code? Trends in cell biology 11 (1): 2-6. doi: https://doi.org/10.1016/S0962-8924(00)01866-3
- Shah MM, Landen CN (2014) Ovarian cancer stem cells: are they real and why are they important? Gynecologic oncology 132 (2): 483-489. doi: https://doi.org/10.1016/j.ygyno.2013.12.001
- Höög JL, Lacomble S, Bouchet-Marquis C, Briggs L, Park K, Hoenger A, Gull K (2016) 3D architecture of the Trypanosoma brucei flagella connector, a mobile transmembrane junction. PLoS Neglected Tropical Diseases 10 (1): e0004312. doi: https://doi.org/10.1371/journal.pntd.0004312
- Sindic A, Chang M-H, Mount DB, Romero MF (2007) Renal physiology of SLC26 anion exchangers. Current opinion in nephrology and hypertension 16 (5): 484-490. doi: https://doi.org/10.1097/MNH.0b013e3282e7d7d0
- Kopp P, Pesce L, Solis-S JC (2008) Pendred syndrome and iodide transport in the thyroid. Trends in Endocrinology & Metabolism 19 (7): 260-268. doi: https://doi.org/10.1016/j.tem.2008.07.001
- Alka K, Casey JR (2014) Bicarbonate transport in health and disease. IUBMB life 66 (9): 596-615. doi: https://doi.org/10.1002/iub.1315
- Cherest H, Davidian J-C, Thomas D, Benes V, Ansorge W, Surdin-Kerjan Y (1997) Molecular characterization of two high affinity sulfate transporters in Saccharomyces cerevisiae. Genetics 145 (3): 627-635. doi: https://doi.org/10.1093/genetics/145.3.627
- Dror AA, Politi Y, Shahin H, Lenz DR, Dossena S, Nofziger C, Fuchs H, de Angelis MH, Paulmichl M, Weiner S (2010) Calcium Oxalate Stone Formation in the Inner Ear as a Result of an Slc26a4 Mutation*♦. Journal of Biological Chemistry 285 (28): 21724-21735. doi: https://doi.org/10.1074/jbc.M110.120188
- Bronckers AL, Guo J, Zandieh‐Doulabi B, Bervoets TJ, Lyaruu DM, Li X, Wangemann P, DenBesten P (2011) Developmental expression of solute carrier family 26A member 4 (SLC26A4/pendrin) during amelogenesis in developing rodent teeth. European journal of oral sciences 119: 185-192. doi: https://doi.org/10.1111/j.1600-0722.2011.00901.x
- Ishimori S, Kaito H, Matsunoshita N, Otsubo H, Hashimoto F, Ninchoji T, Nozu K, Morisada N, Iijima K (2013) SLC26A3 gene analysis in patients with Bartter and Gitelman syndromes and the clinical characteristics of patients with unidentified mutations. Kobe J Med Sci 59 (2): E36-E43. doi: https://doi.org/10.1016/j.mam.2012.07.009
- Witwer KW, Buzás EI, Bemis LT, Bora A, Lässer C, Lötvall J, Nolte-‘t Hoen EN, Piper MG, Sivaraman S, Skog J (2013) Standardization of sample collection, isolation and analysis methods in extracellular vesicle research. Journal of extracellular vesicles 2 (1): 20360. doi: https://doi.org/10.3402/jev.v2i0.20360
- Février B, Raposo G (2004) Exosomes: endosomal-derived vesicles shipping extracellular messages. Current opinion in cell biology 16 (4): 415-421. doi: https://doi.org/10.1016/j.ceb.2004.06.003
- Teng Y, Ren Y, Hu X, Mu J, Samykutty A, Zhuang X, Deng Z, Kumar A, Zhang L, Merchant ML (2017) MVP-mediated exosomal sorting of miR-193a promotes colon cancer progression. Nature communications 8 (1): 14448. doi: https://doi.org/10.1038/ncomms14448
- Studer G, Rempfer C, Waterhouse AM, Gumienny R, Haas J, Schwede T (2020) QMEANDisCo—distance constraints applied on model quality estimation. Bioinformatics 36 (6): 1765-1771. doi: https://doi.org/10.1093/bioinformatics/btz828
- Mariani V, Biasini M, Barbato A, Schwede T (2013) lDDT: a local superposition-free score for comparing protein structures and models using distance difference tests. Bioinformatics 29 (21): 2722-2728. doi: https://doi.org/10.1093/bioinformatics/btt473
- Honda K, Griffith AJ (2022) Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss. Human Genetics 141 (3-4): 455-464. doi: https://doi.org/10.1007/s00439-021-02311-1
- Chouchen J, Mahfood M, Alobathani M, Mohamed WKE, Tlili A (2021) Clinical heterogeneity of the SLC26A4 gene in UAE patients with hearing loss and bioinformatics investigation of DFNB4/Pendred syndrome missense mutations. International Journal of Pediatric Otorhinolaryngology 140: 110467. doi: https://doi.org/10.1016/j.ijporl.2020.110467
)