https://m2.mtmt.hu/ hun 2026-05-25 04:03 JournalArticle 35422606 VALIDATED true Funding Agency and Grant Number: Hungarian National Research, Development and Innovation Office [FK138115, PD142709, TKP2021-EGA-24]; Hungarian National Research, Development and Innovation Office (NKFIH) [TKP2021-EGA]; Ministry of Innovation and Technology of Hungary from the National Research, Development and Innovation Fund Funding text: This work was supported by the Hungarian National Research, Development and Innovation Office (NKFIH grant number: FK138115 and PD142709). Project no. TKP2021-EGA-24 was implemented with the support provided by the Ministry of Innovation and Technology of Hungary from the National Research, Development and Innovation Fund, and financed under the TKP2021-EGA funding scheme. 0 false 2026-05-24T05:14:55.749+0000 2026-02-03T08:41:05.044+0000 2024-09-26T21:17:58.799+0000 true 10000786 Csala Miklós /api/author/10000786 Author true 10000786 2026-02-03T08:41:04.655+0000 2024-10-21T09:30:06.216+0000 true 10080205 Szalóky-Siki Ágnes /api/admin/10080205 Admin true true false true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType 101 true 10000059 true 1 /api/category/1 Category true 1 Susán, Hanna K. Severity Ranking of Missense and Frameshift Genetic Variants in SCD1 by In Silico and In Vitro Functional Analysis true true /api/journal/10016563 REVIEWED true false 10016563 false 10016563 true 2072-6643 Journal FOREIGN 16 19 3259 3259 20 2024 Background: A considerable proportion of the symptoms associated with excessive dietary intake can be attributed to systemic imbalances in lipid metabolism. The prominent toxicity of saturated fatty acids has been repeatedly demonstrated and sheds light on the protective role of stearoyl-CoA desaturase-1 (SCD1), the key enzyme for fatty acid desaturation. SCD1 protein expression is regulated at the levels of transcription, translation, and degradation. However, the modulating effect of the variability of the human genome must also be taken into account. Therefore, we aimed to ascertain whether natural missense or frameshift mutations in SCD1 (p.H125P, p.M224L, p.A333T, p.R253AfsTer7) could influence the expression, degradation, or function of the enzyme. Methods: In silico and in vitro experiments were conducted to comprehensively evaluate the consequences associated with each genetic variation, with the objective of using the results to propose a risk or severity ranking of SCD1 variants. Results: As anticipated, the p.R253AfsTer7 variant was identified as the most deleterious in structural, functional, and quantitative terms. The p.H125P variant also reduced the desaturation capacity of the enzyme in accordance with the predicted structural alterations and augmented degradation resulting from folding complications. This was aggravated by increased mRNA instability and accompanied by mild endoplasmic reticulum stress induction. The p.A333T protein exhibited an intermediate phenotype, whereas p.M224L showed no deleterious effects and even increased the amount of SCD1. Conclusions: In conclusion, the large-scale identification of genetic variations needs to be supplemented with comprehensive functional characterization of these variations to facilitate adequate personalized prevention and treatment of lipid metabolism-related conditions. Funding 2045704 /api/funding/2045704 false true Funding 2045705 /api/funding/2045705 false true Funding 2045706 /api/funding/2045706 false true true 2024 true true true false true false GOLD 2026-05-24 true https://doi.org/10.3390/nu16193259 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 6 6 D1 false false false false 2024-10-20T09:30:05.864+0000 Molekuláris Biológiai Tanszék (SE / AOK / I / BMBI) 5 15 1 5 0 true Language 10002 /api/language/10002 Angol English true 2 true PersonAuthorship 120655140 /api/authorship/120655140 1 0.2 true false false Author 10097691 /api/author/10097691 Susán Hanna true true Susán Hanna K. true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 120655141 /api/authorship/120655141 2 0.2 false false false Author 10085434 /api/author/10085434 Orosz Gabriella true true Orosz Gabriella true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 120655142 /api/authorship/120655142 3 0.2 false false false Author 10025630 /api/author/10025630 Zámbó Veronika true 10025630 true Zámbó Veronika true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 120655143 /api/authorship/120655143 4 0.2 false false false Author 10000786 /api/author/10000786 Csala Miklós true 10000786 true Csala Miklós true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 120655144 /api/authorship/120655144 5 0.2 false true true Author 10020321 /api/author/10020321 Kereszturi Éva true 10020321 true Kereszturi Éva true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PublicationIdentifier 27552029 /api/publicationidentifier/27552029 PlainSource 6 /api/publicationsource/6 PublicationSourceType 10001 /api/publicationsourcetype/10001 true true true DOI DOI https://doi.org/@@@ true true 6 true GOLD true IDENTICAL 10.3390/nu16193259 https://doi.org/10.3390/nu16193259 false true PublicationIdentifier 27672071 /api/publicationidentifier/27672071 PlainSource 1 /api/publicationsource/1 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true WoS WoS https://www.webofscience.com/wos/woscc/full-record/@@@ true true 1 true IDENTICAL 001332144900001 https://www.webofscience.com/wos/woscc/full-record/001332144900001 false true PublicationIdentifier 27695971 /api/publicationidentifier/27695971 PlainSource 3 /api/publicationsource/3 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true Scopus Scopus http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-@@@ true true 3 true IDENTICAL 85206548120 http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85206548120 true true PublicationIdentifier 27672072 /api/publicationidentifier/27672072 PlainSource 17 /api/publicationsource/17 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true PubMed PubMed http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=@@@&dopt=Abstract true true 17 true IDENTICAL 39408225 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=39408225&dopt=Abstract false true PublicationIdentifier 31336827 /api/publicationidentifier/31336827 PlainSource 40 /api/publicationsource/40 PublicationSourceType 10006 /api/publicationsourcetype/10006 true true true Egyéb URL Other URL @@@ true true 40 true IDENTICAL https://www.mdpi.com/2072-6643/16/19/3259 https://www.mdpi.com/2072-6643/16/19/3259 false true Classification 12389 /api/classification/12389 true true SjrRating 11464918 /api/sjrrating/11464918 23 0.1 journal RatingType 10002 /api/ratingtype/10002 sjr true true ClassificationExternal 1106 /api/classificationexternal/1106 true 1106 true D1 DIRECT true true /api/publication/35422606 <div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" mtid="10097691"><a href="/gui2/?type=authors&mode=browse&sel=10097691" target="_blank">Susán Hanna K. (<span class="authorship-author-name">Susán Hanna</span> <span class="authorAux-mtmt"> Molekuláris biológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Biokémiai és Molekuláris Biológiai Intézet">BMBI</span>/Molekuláris Biológiai Tanszék</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10085434"><a href="/gui2/?type=authors&mode=browse&sel=10085434" target="_blank">Orosz Gabriella (<span class="authorship-author-name">Orosz Gabriella</span> <span class="authorAux-mtmt"> Molekuláris biológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Biokémiai és Molekuláris Biológiai Intézet">BMBI</span>/Molekuláris Biológiai Tanszék</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10025630"><a href="/gui2/?type=authors&mode=browse&sel=10025630" target="_blank">Zámbó Veronika (<span class="authorship-author-name">Zámbó Veronika</span> <span class="authorAux-mtmt"> Molekuláris biológia, biokémia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Biokémiai és Molekuláris Biológiai Intézet">BMBI</span>/Molekuláris Biológiai Tanszék</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10000786"><a href="/gui2/?type=authors&mode=browse&sel=10000786" target="_blank">Csala Miklós (<span class="authorship-author-name">Csala Miklós</span> <span class="authorAux-mtmt"> Biokémia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Biokémiai és Molekuláris Biológiai Intézet">BMBI</span>/Molekuláris Biológiai Tanszék</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10020321"><a href="/gui2/?type=authors&mode=browse&sel=10020321" target="_blank">Kereszturi Éva ✉ (<span class="authorship-author-name">Kereszturi Éva</span> <span class="authorAux-mtmt"> Biokémia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Biokémiai és Molekuláris Biológiai Intézet">BMBI</span>/Molekuláris Biológiai Tanszék</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;35422606" target="_blank">Severity Ranking of Missense and Frameshift Genetic Variants in SCD1 by In Silico and In Vitro Functional Analysis</a></div> <div> <span class="journal-title">NUTRIENTS</span> <span class="journal-issn">( <a target="_blank" href="https://portal.issn.org/resource/ISSN/2072-6643">2072-6643</a>)</span>: <span class="journal-volume">16</span> <span class="journal-issue">19</span> <span class="page"> Paper 3259. 20 p. </span> <span class="year">(2024)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Angol | </span> <span class="identifiers"> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:blue" title="10.3390/nu16193259" target="_blank" href="https://doi.org/10.3390/nu16193259"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="001332144900001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/001332144900001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85206548120" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85206548120"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="39408225" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=39408225&dopt=Abstract"> PubMed </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="https://www.mdpi.com/2072-6643/16/19/3259" target="_blank" href="https://www.mdpi.com/2072-6643/16/19/3259"> Egyéb URL </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Food Science&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;D1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Nutrition and Dietetics&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;D1</div> </div></OnlyViewableByAuthor> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;35422606&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 6 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 35422606</span> | <span class="status-data status-VALIDATED"> Egyeztetett </span> Forrás Idéző | <span class="type-subtype">Folyóiratcikk ( Szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">kézi felvitel</span> </div> <div class="funder"> (FK138115) Támogató: NKFIH, (PD142709), (TKP2021-EGA-24) </div> <div class="lastModified">Utolsó módosítás: 2026.02.03. 09:41 Kondor Zóra (SE_KK_Admin5_KZ, admin) </div> <pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Funding Agency and Grant Number: Hungarian National Research, Development and Innovation Office [FK138115, PD142709, TKP2021-EGA-24]; Hungarian National Research, Development and Innovation Office (NKFIH) [TKP2021-EGA]; Ministry of Innovation and Technology of Hungary from the National Research, Development and Innovation Fund Funding text: This work was supported by the Hungarian N...</pre> </div></div>