{"id":23099,"date":"2025-04-22T09:14:14","date_gmt":"2025-04-22T07:14:14","guid":{"rendered":"https:\/\/elainternational.eu\/?post_type=news_research&p=23099"},"modified":"2025-04-22T10:15:33","modified_gmt":"2025-04-22T08:15:33","slug":"single-cell-analysis-of-abcd1-transport-function-using-abcd1-specific-probes-to-differentiate-between-benign-and-pathogenic-variants-of-abcd1","status":"publish","type":"news_research","link":"https:\/\/elainternational.eu\/en\/actualites_recherche\/single-cell-analysis-of-abcd1-transport-function-using-abcd1-specific-probes-to-differentiate-between-benign-and-pathogenic-variants-of-abcd1\/","title":{"rendered":"Single-cell analysis of ABCD1 transport function using ABCD1-specific probes to differentiate between benign and pathogenic variants of ABCD1"},"content":{"rendered":"\n\n
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Single-cell analysis of ABCD1<\/em> transport function using ABCD1<\/em>-specific probes to differentiate between benign and pathogenic variants of ABCD1<\/em><\/strong><\/h2>\n <\/div>\n <\/div>\n<\/section>\n\n\n
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Stephan Kemp, Amsterdam UMC University of Amsterdam – Netherlands – Triana Amen, University of Southampton – United KingdomELA 2024-017C1<\/em><\/p>\n <\/div>\n<\/section>\n\n\n\n\n\n

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Project abstract<\/strong><\/h5>\n <\/div>\n
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X-linked adrenoleukodystrophy (ALD) is a genetic disorder that affects the nervous system and adrenal glands. It is caused by mutations in the ABCD1<\/em> gene that lead to the accumulation of very long-chain fatty acids (VLCFA) in the body. These fatty acids build up in various tissues, including the adrenal glands, spinal cord, and brain, causing damage. Boys with ALD are typically healthy at birth, but about half will develop adrenal insufficiency and about a third will develop cerebral ALD (CALD) by the age of 10. In adults, both men and women can develop a condition called adrenomyeloneuropathy (AMN), which progressively affects the spinal cord.<\/p>\n

Hematopoietic stem cell transplantation (HSCT) can halt the progression of CALD if performed early, but early diagnosis is crucial. Newborn screening (NBS) has greatly improved the care of boys with ALD by allowing early detection and intervention, which can prevent irreversible damage. In the U.S., more than 44 states have included ALD in their newborn screening programs, and other countries such as Taiwan and the Netherlands, have initiated ALD newborn screening.<\/p>\n

Despite the success of newborn screening in identifying boys at risk for ALD, there are challenges. One important issue is the high rate of identification of variants of uncertain significance (VUS) in the ABCD1 gene. These VUS can be difficult to classify as pathogenic (ALD) or benign (no ALD), complicating diagnosis and management. This uncertainty can lead to unnecessary medical procedures and anxiety for families.<\/p>\n

To address this, we have developed a new type of probe, called PeroxiSPY, that allows live imaging of peroxisomes (cell structures involved in fatty acid metabolism). These probes can help identify functional abnormalities in peroxisomes and are dependent on ABCD1<\/em>-3 transporters. By designing ABCD1-specific PeroxiSPY probes, we aim to develop a test that can accurately measure the function of the ABCD1 protein. This would help distinguish between benign and pathogenic variants of the gene, improving the accuracy and utility of newborn screening programs for ALD.<\/p>\n

The project aims to generate ABCD1-specific PeroxiSPY probes that will allow precise measurement of ABCD1 function using advanced microscopy techniques. This will be tested in cells derived from ALD patients and individuals with VUS in ABCD1. The availability of a rapid and sensitive assay to define whether a VUS is pathogenic (causing ALD) or benign (not causing ALD) is of paramount importance to families.<\/p>\n <\/div>\n <\/div>\n<\/section>","protected":false},"excerpt":{"rendered":"","protected":false},"author":6,"featured_media":0,"parent":0,"template":"","news_research_categories":[127],"news_research_tags":[109],"class_list":["post-23099","news_research","type-news_research","status-publish","hentry","news_research_categories-project","news_research_tags-x-linked-adrenoleukodystrophy"],"acf":[],"yoast_head":"\nSingle-cell analysis of ABCD1 transport function using ABCD1-specific probes to differentiate between benign and pathogenic variants of ABCD1 - ELA International<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/elainternational.eu\/en\/actualites_recherche\/single-cell-analysis-of-abcd1-transport-function-using-abcd1-specific-probes-to-differentiate-between-benign-and-pathogenic-variants-of-abcd1\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Single-cell analysis of ABCD1 transport function using ABCD1-specific probes to differentiate between benign and pathogenic variants of ABCD1 - 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