{"id":5078,"date":"2019-06-21T00:00:00","date_gmt":"2019-06-20T22:00:00","guid":{"rendered":"https:\/\/idibell.cat\/en\/blog\/2020\/05\/01\/researchers-identify-an-amino-acid-transporter-as-responsible-for-the-onset-of-congenital-cataracts\/"},"modified":"2020-05-28T11:34:06","modified_gmt":"2020-05-28T09:34:06","slug":"researchers-identify-an-amino-acid-transporter-as-responsible-for-the-onset-of-congenital-cataracts","status":"publish","type":"post","link":"https:\/\/idibell.cat\/en\/2019\/06\/researchers-identify-an-amino-acid-transporter-as-responsible-for-the-onset-of-congenital-cataracts\/","title":{"rendered":"Researchers identify an amino acid transporter as responsible for the onset of congenital cataracts"},"content":{"rendered":"

The ‘human molecular genetics’ research group of the Bellvitge Biomedical Research Institute, led by Dr. Virginia Nunes (IDIBELL – UB – CIBERER), has participated in a research study demonstrating that\u00a0the amino acid transporter LAT2 causes congenital cataracts in both animals and\u00a0humans.<\/p>\n

\u00a0<\/p>\n

This study, published in Frontiers in Physiology, has discovered that LAT2 ablation causes cataracts and that the incidence of this disease increases in cases in which TAT1 ablation also exists – in mouse models of loss of function of these two amino acid transporters. The work has also been co-led by Manuel Palac\u00edn (IRB – UB – CIBERER) and Fran\u00e7ois Verrey and Barbara Kloeckener-Gruissem, from the University of Zurich.<\/p>\n

\u00a0<\/p>\n

Cataracts account for approximately 50% of global blindness and have been associated with problems in the transport of solutes and water through the cellular barriers of the lens. Age-related cataracts\u00a0(ARC) are considered a multifactorial disease, while early-onset cataracts, which are congenital or appear with\u00a0the first years of life, affect a minority of patients (between 3-6 \/ 10,000) and present an autosomal recessive inheritance pattern.<\/p>\n

\u00a0<\/p>\n

Both LAT2 and TAT1 are expressed in the ciliary body of the mouse and LAT2 also in the epithelium of the lens. The ablation of LAT2 leads to a drastic decrease in the levels of essential amino acids in the lens, which is aggravated by the ablation of TAT1.<\/p>\n

\u00a0<\/p>\n

On the other hand, the analysis\u00a0of the SLC7A8 gene carried out in this study, which codes for LAT2, has allowed researchers to\u00a0identify\u00a0a homozygous mutation,\u00a0which eliminates the expression of LAT2, in a family with two affected children who presented congenital cataracts with an autosomal recessive inheritance pattern.\u00a0 Mutations in LAT2 could also contribute to ARC since patients with mutations in LAT2 have been found in heterozygosis and that affects the trasnporter function.<\/p>\n

\u00a0<\/p>\n

A larger study is needed in order\u00a0to determine the incidence of mutations in LAT2, and the possible contribution of mutations in TAT1\u00a0to\u00a0cataracts associated with age. The obtained data allow researchers\u00a0to establish that SLC7A8 is a new cataract gene in both humans and mice. This opens up the possibility that mutations in other amino acid transporters operating in the lens may be involved in the genesis of cataracts in both mouse and humans.<\/p>\n","protected":false},"excerpt":{"rendered":"

The ‘human molecular genetics’ research group of the Bellvitge Biomedical Research Institute, led by Dr. Virginia Nunes (IDIBELL – UB – CIBERER), has participated in a research study demonstrating that\u00a0the amino acid transporter LAT2 causes congenital cataracts in both animals and\u00a0humans. \u00a0 This study, published in Frontiers in Physiology, has discovered that LAT2 ablation causes […]<\/p>\n","protected":false},"author":6,"featured_media":7338,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"no-sidebar","site-content-layout":"page-builder","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"default","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[235,182],"tags":[],"class_list":["post-5078","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-human-molecular-genetics-genes-disease-and-therapy-program","category-traslacional-medicine"],"publishpress_future_action":{"enabled":false,"date":"2025-03-02 03:30:45","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/posts\/5078","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/comments?post=5078"}],"version-history":[{"count":0,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/posts\/5078\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/media\/7338"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/media?parent=5078"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/categories?post=5078"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/tags?post=5078"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}