23
DOI: https://doi.org/10.1186/s43141-022-00405-5
English
eng
Biswas, Anik
Contributor
<p><ul id="issue-navigation" class="issue-navigation u-margin-s-bottom u-bg-grey1" style="box-sizing: border-box; margin-top: 0px; margin-right: 0px; margin-bottom: 16px !important; margin-left: 0px; padding: 0px; list-style: none; background-color: rgb(245, 245, 245) !important; overflow: hidden; font-size: 16px; line-height: 24px;"><li class="previous move-left u-padding-s-ver u-padding-s-left" style="box-sizing: border-box; margin: 0px; padding-top: 16px !important; padding-right: 0px; padding-bottom: 16px !important; padding-left: 16px !important; float: left; left: 0px;"><a class="button-alternative button-alternative-tertiary u-display-flex button-alternative-icon-left" href="https://www.sciencedirect.com/science/article/pii/S1687157X23008351" style="box-sizing: border-box; margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; --sd-ui-button-alt-border-bottom-colour: transparent; --sd-ui-button-alt-border-bottom-colour-hover: #eb6500; --sd-ui-button-alt-border-bottom-width: 2px; --sd-ui-button-alt-colour: #1f1f1f; --sd-ui-button-alt-colour-focus: #eb6500; --sd-ui-button-alt-cursor: pointer; --sd-ui-button-alt-font-size: 1em; --sd-ui-button-alt-gap: calc(0.5em - 2px); --sd-ui-button-alt-min-width: 5.5rem; --sd-ui-button-alt-icon-background-colour: transparent; --sd-ui-button-alt-icon-background-colour-hover: transparent; --sd-ui-button-alt-icon-border-colour: #1f1f1f; --sd-ui-button-alt-icon-border-colour-hover: #eb6500; --sd-ui-button-alt-icon-fill: #1f1f1f; --sd-ui-button-alt-icon-fill-hover: #1f1f1f; --sd-ui-button-alt-icon-padding: 0.5rem; --sd-ui-button-alt-icon-size: 2.5rem; --sd-ui-button-alt-icon-external-link-size: 0.625rem; -webkit-box-align: baseline; align-items: baseline; border: none; color: rgb(31, 31, 31); cursor: pointer; display: flex !important; font-family: inherit; font-size: 16px; gap: 6px; line-height: 24px; min-width: 88px; text-decoration: none; user-select: text;"><svg focusable="false" viewBox="0 0 54 128" height="20" class="icon icon-navigate-left" style="color: rgb(31, 31, 31); font-family: ElsevierSans, Arial, Helvetica, Roboto, "Lucida Sans Unicode", "Microsoft Sans Serif", "Segoe UI Symbol", STIXGeneral, "Cambria Math", "Arial Unicode MS", sans-serif; font-size: 16px; font-style: normal; font-variant-ligatures: normal; font-variant-caps: normal; font-weight: 400; letter-spacing: normal; orphans: 2; text-align: start; text-indent: 0px; text-transform: none; widows: 2; word-spacing: 0px; -webkit-text-stroke-width: 0px; white-space: normal; text-decoration-thickness: initial; text-decoration-style: initial; text-decoration-color: initial;"><path d="M1 61l45-45 7 7-38 38 38 38-7 7z"></path></svg></a></li></ul></p><div class="Abstracts u-font-serif" id="abstracts" style="box-sizing: border-box; margin: 0px; padding: 0px; --sd-ui-line-height: calc(1em + 10px); line-height: 26px; font-family: ElsevierGulliver, Georgia, "Times New Roman", Times, STIXGeneral, "Cambria Math", "Lucida Sans Unicode", "Microsoft Sans Serif", "Segoe UI Symbol", "Arial Unicode MS", serif, sans-serif !important;"><div class="abstract author" id="ab0005" style="box-sizing: border-box; margin: 0px 0px 8px; padding: 0px;"><div id="abs0005" style="box-sizing: border-box; margin: 0px; padding: 0px;"><h3 class="u-h4 u-margin-m-top u-margin-xs-bottom" id="sect0010" style="box-sizing: border-box; margin-top: 24px !important; margin-right: 0px; margin-bottom: 8px !important; margin-left: 0px; padding: 0px; font-weight: normal !important; font-size: 20px !important; line-height: 30px !important;">Background</h3><div class="u-margin-s-bottom" id="sp0065" style="box-sizing: border-box; margin-top: 0px; margin-right: 0px; margin-bottom: 16px !important; margin-left: 0px; padding: 0px;"><a href="https://www.sciencedirect.com/topics/medicine-and-dentistry/arthrogryposis" title="Learn more about Arthrogryposis from ScienceDirect's AI-generated Topic Pages" class="topic-link" style="box-sizing: border-box; margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration: underline 1px rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">Arthrogryposis</a><span style="box-sizing: border-box; margin: 0px; padding: 0px;"><span style="box-sizing: border-box; margin: 0px; padding: 0px;"><span> </span>is a medical term used to describe congenital contractures which often affect multiple limbs. Distal arthrogryposis (DA) is one of the major categories of arthrogryposis that primarily affects the distal parts of the body, i.e., the hands and the legs. Although ten different types and several subtypes of DAs have been described, the genes associated with each of these DAs are yet to be characterized. Distal arthrogryposis type 10 (DA10) is a rare genetic disease, which is distinguished from the other arthrogryposis types by plantar<span> </span><a href="https://www.sciencedirect.com/topics/medicine-and-dentistry/flexion-contracture" title="Learn more about flexion contractures from ScienceDirect's AI-generated Topic Pages" class="topic-link" style="box-sizing: border-box; margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration: underline 1px rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">flexion contractures</a><span> </span>resulting in toe-walking during infancy as well as variability in contractures of the hip, hamstring, elbow, wrist and finger joints with no ocular or neurological abnormalities. Symptoms of DA10 indicate impairment specifically in the<span> </span></span><a href="https://www.sciencedirect.com/topics/medicine-and-dentistry/musculoskeletal-system" title="Learn more about musculoskeletal system from ScienceDirect's AI-generated Topic Pages" class="topic-link" style="box-sizing: border-box; margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration: underline 1px rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">musculoskeletal system</a>. DA10 is still poorly studied.</span></div></div><div id="abs0010" style="box-sizing: border-box; margin: 0px; padding: 0px;"><h3 class="u-h4 u-margin-m-top u-margin-xs-bottom" id="sect0015" style="box-sizing: border-box; margin-top: 24px !important; margin-right: 0px; margin-bottom: 8px !important; margin-left: 0px; padding: 0px; font-weight: normal !important; font-size: 20px !important; line-height: 30px !important;">Aim</h3><div class="u-margin-s-bottom" id="sp0070" style="box-sizing: border-box; margin-top: 0px; margin-right: 0px; margin-bottom: 16px !important; margin-left: 0px; padding: 0px;">The objective of this study was to identify the candidate gene for DA10 by scrutinizing the protein-protein interaction (PPI) networks using<span> </span><a href="https://www.sciencedirect.com/topics/medicine-and-dentistry/in-silico" title="Learn more about in silico from ScienceDirect's AI-generated Topic Pages" class="topic-link" style="box-sizing: border-box; margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration: underline 1px rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">in silico</a><span> </span>tools.</div></div><div id="abs0015" style="box-sizing: border-box; margin: 0px; padding: 0px;"><h3 class="u-h4 u-margin-m-top u-margin-xs-bottom" id="sect0020" style="box-sizing: border-box; margin-top: 24px !important; margin-right: 0px; margin-bottom: 8px !important; margin-left: 0px; padding: 0px; font-weight: normal !important; font-size: 20px !important; line-height: 30px !important;">Results</h3><div class="u-margin-s-bottom" id="sp0075" style="box-sizing: border-box; margin-top: 0px; margin-right: 0px; margin-bottom: 16px !important; margin-left: 0px; padding: 0px;">Among the genes that reside within the previously reported genomic coordinates (human chromosome assembly 38 or GRCh38 coordinates 2:179,700,000–188,500,000) of the causative agent of DA10, only<span> </span><span style="box-sizing: border-box; margin: 0px; padding: 0px;"><span style="box-sizing: border-box; margin: 0px; padding: 0px;"><a href="https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/titin" title="Learn more about TTN from ScienceDirect's AI-generated Topic Pages" class="topic-link" style="box-sizing: border-box; margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration: underline 1px rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">TTN</a></span></span><span style="box-sizing: border-box; margin: 0px; padding: 0px;"><span> </span>(the gene that codes for the protein Titin or TTN) follows the expression pattern similar to the other known DA associated genes and its expression is predominant in the skeletal and heart muscles. Titin also participates in biological pathways and processes relevant to arthrogryposes. TTN-related known<span> </span><a href="https://www.sciencedirect.com/topics/medicine-and-dentistry/skeletal-muscle" title="Learn more about skeletal muscle from ScienceDirect's AI-generated Topic Pages" class="topic-link" style="box-sizing: border-box; margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration: underline 1px rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">skeletal muscle</a><span> </span>disorders follow the autosomal-dominant pattern of inheritance, which is a common characteristic of distal arthrogryposes as well.</span></div></div><div id="abs0020" style="box-sizing: border-box; margin: 0px; padding: 0px;"><h3 class="u-h4 u-margin-m-top u-margin-xs-bottom" id="sect0025" style="box-sizing: border-box; margin-top: 24px !important; margin-right: 0px; margin-bottom: 8px !important; margin-left: 0px; padding: 0px; font-weight: normal !important; font-size: 20px !important; line-height: 30px !important;">Conclusion</h3><div class="u-margin-s-bottom" id="sp0080" style="box-sizing: border-box; margin-top: 0px; margin-right: 0px; margin-bottom: 16px !important; margin-left: 0px; padding: 0px;">Based on the findings of the analyses and their correlation with previous reports,<span> </span><em style="box-sizing: border-box; margin: 0px; padding: 0px;">TTN</em><span> </span>appears to be the candidate gene for DA10. Our attempt to discover a potential candidate gene may eventually lead to an understanding of disease mechanism and possible treatment strategies, as well as demonstrate the suitability of PPI in the search for candidate genes.</div></div></div></div>
Elsevier
December 2022
pdf
Journal of Genetic Engineering and Biotechnology
TTN as a candidate gene for distal arthrogryposis type 10 pathogenesis
mixed material
Elsevier