Molecular genetics and metabolism最新文献

{"title":"A new insight in Pompe disease: Pharmacokinetic variability after recombinant alpha-glucosidase infusion","authors":"Martha C. Faraguna , Edwin H. Jacobs , Marianne Hoogeveen-Westerveld , Serena Gasperini , Hannerieke J.M.P. Van den Hout , Ans Van der Ploeg","doi":"10.1016/j.ymgme.2024.108715","DOIUrl":"10.1016/j.ymgme.2024.108715","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108715"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143128185","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigating the genomic basis of phenotypic diversity among siblings in Gaucher disease","authors":"Noor Ul Ain, Nina Kulkarni, Jiapeng Ruan, Audrey Ruan, Shiny Nair, Sameet Mehta, Pramod K. Mistry","doi":"10.1016/j.ymgme.2024.108633","DOIUrl":"10.1016/j.ymgme.2024.108633","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108633"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143128816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High precision newborn screening for mucopolysaccharidosis type I by enzymatic activity followed by endogenous, non-reducing end glycosaminoglycan analysis.","authors":"Zackary M Herbst, Francyne Kubaski, Laura Pollard, Khaja Basheeruddin, Barbara Burton, Joseph Orsini, Matthew Henderson, Pranesh Chakraborty, Michael H Gelb","doi":"10.1016/j.ymgme.2024.108612","DOIUrl":"10.1016/j.ymgme.2024.108612","url":null,"abstract":"<p><p>Measurement of enzymatic activity in newborn dried blood spots (DBS) is the preferred first-tier method in newborn screening (NBS) for mucopolysaccharidosis (MPS) disorders. However, false positives are observed due mainly to the presence of pseudodeficiencies. Our previous publications on glycosaminoglycan (GAG) biomarker levels in dried blood spots (DBS) for mucopolysaccharidoses demonstrated that second-tier GAG biomarker analysis can dramatically reduce the false positive rate in NBS. In the present study, we extend this approach to the analysis of a large number of false positives for MPS-I obtained from the Illinois, New York, and Tennessee NBS programs and from Greenwood Genetics Center. Results show that GAG levels measured by the Endogenous-Non-Reducing End method (Endogenous-NRE) are in the normal reference range for all samples. In a second study, we analyzed 166 samples that showed below-cutoff MPS-I enzymatic activity level after testing 384,144 newborns in the Ontario, Canada NBS program. Both genotype and Endogenous-NRE GAG levels were determined for all 166 samples. Newborns at high risk for MPS-I based on genotype also showed elevated GAG levels and were clinically confirmed to be symptomatic for MPS-I. All newborns with pseudodeficiency or carrier status by genotyping all showed normal levels of the appropriate GAG biomarker. Samples found to be inconclusive based on one or more variants of unknown significance (VUS) all showed normal GAG biomarker levels and were found to be clinically normal during follow-up. These studies show that the Endogenous-NRE GAG second-tier NBS method is preferred over second-tier DNA analysis for the NBS of MPS-I with minimal false positives.</p>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":" ","pages":"108612"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142792094","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project.","authors":"Melania Scarcella, Simona Fecarotta, Marianna Alagia, Ferdinando Barretta, Fabiana Uomo, Valeria De Pasquale, Hari S Patel, Pietro Strisciuglio, Giancarlo Parenti, Giulia Frisso, Luigi Michele Pavone, Margherita Ruoppolo","doi":"10.1016/j.ymgme.2024.109008","DOIUrl":"10.1016/j.ymgme.2024.109008","url":null,"abstract":"<p><strong>Background: </strong>Newborn screening (NBS) is a simple, non-invasive test that allows for the early identification of genetic diseases within the first days of a newborn's life. The aim of NBS is to detect potentially fatal or disabling conditions in newborns as early as possible, before the onset of disease symptoms. Early diagnosis enables timely treatments and improves the quality of life for affected patients.</p><p><strong>Results: </strong>A pilot project for dried blood spot (DBS) NBS of lysosomal storage diseases (LSDs), including Mucopolysaccharidosis I (MPSI, IDUA α-L-iduronidase deficiency), Pompe disease (GAA α-glucosidase acid deficiency), Gaucher disease (GBA β-glucosidase deficiency) and Fabry disease (GLA α-galactosidase deficiency), was conducted using the digital microfluidic (DMF) technique. DBS were analyzed in a multiplexed assays for the enzymatic activities of four lysosomal enzymes (IDUA, GAA, GBA, GLA), and subjects identified as deficient in any of these enzymes were referred to the clinical reference center for diagnosis confirmation. From June 6th, 2022, to May 12th, 2023, a total of 7650 newborns were analyzed and 1 subject affected by Pompe disease was identified together with two additional subjects, suspected of Pompe and Fabry disease respectively, for whom continued follow-up is mandatory to determine the phenotype.</p><p><strong>Conclusions: </strong>The pilot project for DBS NBS of four LSDs in Campania Region validated the effectiveness of DMF method, established enzymatic activity cut-offs, and identified newborns referred to the clinical center for integrated diagnostics, including genetic analyses. The results suggest that this technique can effectively detect potentially affected newborns, who will require further diagnostic confirmation and clinical follow-up. This diagnostic flow chart provides the opportunity to initiate early treatments and improve LSD patients' life span.</p>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":" ","pages":"109008"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142952004","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epilepsy is part of the central nervous system phenotype in classic infantile Pompe disease","authors":"Martha C. Faraguna ,&nbsp;Alexander Broomfield ,&nbsp;Serena Gasperini ,&nbsp;Hernan Amartino ,&nbsp;Elena Procopio ,&nbsp;Francesca Maria Menni ,&nbsp;Federica Deodato ,&nbsp;Ans van der Ploeg ,&nbsp;Andreas Hahn ,&nbsp;Hannerieke J.M.P. van den Hout","doi":"10.1016/j.ymgme.2024.108714","DOIUrl":"10.1016/j.ymgme.2024.108714","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108714"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143128290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Polycystic kidney disease complicates renal pathology in two families with Fabry disease","authors":"Cathy Duong,&nbsp;Angela M. Martin Rios,&nbsp;Alyaa Shmara,&nbsp;Katherine Hall,&nbsp;Virginia Kimonis","doi":"10.1016/j.ymgme.2024.108708","DOIUrl":"10.1016/j.ymgme.2024.108708","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108708"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143132157","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Two hundred and fifty cases of “Gaucher disease type 2 “: A novel system of clinical categorization and evidence of genotype:phenotype correlation","authors":"Aimee Donald ,&nbsp;Shona Brothwell ,&nbsp;Christoffer Ehrstedt ,&nbsp;Jose Ramon Fernandez-Fructuoso ,&nbsp;Domingo Gonzalez-Lamuño Leguina ,&nbsp;Jose Maria Lloreda Garcia ,&nbsp;Cyril Mignot ,&nbsp;Beatriz Muñoz ,&nbsp;James H. Nurse ,&nbsp;Siobhan O'Sullivan ,&nbsp;Anna Nielsen Persson ,&nbsp;Julian A. Raiman ,&nbsp;Deepa Rajan ,&nbsp;Jose Uberos ,&nbsp;Simon Jones ,&nbsp;Heather J. Church","doi":"10.1016/j.ymgme.2024.108705","DOIUrl":"10.1016/j.ymgme.2024.108705","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108705"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143132158","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prodromal parkinsonian features in carriers of variants in GBA1: Who is at risk for developing Sidransky syndrome?","authors":"Michal Becker-Cohen ,&nbsp;Shoshana Revel-Vilk ,&nbsp;Tama Dinur ,&nbsp;David Arkadir ,&nbsp;Elena Shulman ,&nbsp;Gilad Yahalom ,&nbsp;Ari Zimran","doi":"10.1016/j.ymgme.2024.108653","DOIUrl":"10.1016/j.ymgme.2024.108653","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108653"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143135167","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development and validation of an intravenous AAV gene therapy for mucopolysaccharidosis type IIIB in mouse and dog model of the pathology","authors":"Elena Gaia Banchi ,&nbsp;Nissrine Ballout ,&nbsp;Rafael Alonso ,&nbsp;Johan Deniaud ,&nbsp;Sylvie Jacquot ,&nbsp;Kevin Fransquin ,&nbsp;Françoise Roux ,&nbsp;Marie-Anne S. Colle ,&nbsp;Jérôme Ausseil ,&nbsp;Françoise Piguet","doi":"10.1016/j.ymgme.2024.108649","DOIUrl":"10.1016/j.ymgme.2024.108649","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108649"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143171892","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Alpha mannosidosis: One center's experience with three patient's diagnoses, interventions, and biomarkers","authors":"Laura D. Buch","doi":"10.1016/j.ymgme.2024.108667","DOIUrl":"10.1016/j.ymgme.2024.108667","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108667"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143172522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}