Highlights on Genomics Applications for Lysosomal Storage Diseases

Overview

Journal Cells

Publisher MDPI

Specialties Biochemistry
Biophysics
Cell Biology
Molecular Biology

Date 2020 Aug 23

PMID 32824006

Citations 12

Authors

Valentina La Cognata

Maria Guarnaccia

Agata Polizzi

Martino Ruggieri

Sebastiano Cavallaro

Affiliations

Soon will be listed here.

Abstract

Lysosomal storage diseases (LSDs) are a heterogeneous group of rare multisystem genetic disorders occurring mostly in infancy and childhood, characterized by a gradual accumulation of non-degraded substrates inside the lysosome. Although the cellular pathogenesis of LSDs is complex and still not fully understood, the approval of disease-specific therapies and the rapid emergence of novel diagnostic methods led to the implementation of extensive national newborn screening (NBS) programs in several countries. In the near future, this will help the development of standardized workflows aimed to more timely diagnose these conditions. Hereby, we report an overview of LSD diagnostic process and treatment strategies, provide an update on the worldwide NBS programs, and discuss the opportunities and challenges arising from genomics applications in screening, diagnosis, and research.

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References

Scolamiero E, Casetta B, Malvagia S, Tanigawa T, Forni G, Funghini S . Development of a fast LC-MS/MS protocol for combined measurement of six LSDs on dried blood spot in a newborn screening program. J Pharm Biomed Anal. 2018; 165:135-140. DOI: 10.1016/j.jpba.2018.12.002. View

Wang R, Bodamer O, Watson M, Wilcox W . Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011; 13(5):457-84. DOI: 10.1097/GIM.0b013e318211a7e1. View

Li M . Enzyme Replacement Therapy: A Review and Its Role in Treating Lysosomal Storage Diseases. Pediatr Ann. 2018; 47(5):e191-e197. DOI: 10.3928/19382359-20180424-01. View

Malaga D, Brusius-Facchin A, Siebert M, Pasqualim G, Saraiva-Pereira M, de Souza C . Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders. Genet Mol Biol. 2019; 42(1 suppl 1):197-206. PMC: 6687342. DOI: 10.1590/1678-4685-GMB-2018-0092. View

Pianese L, Fortunato A, Silvestri S, Solano F, Burlina A, Burlina A . Maternal germline mosaicism in Fabry disease. Neurol Sci. 2019; 40(6):1279-1281. DOI: 10.1007/s10072-019-03754-1. View

Sands M, Davidson B . Gene therapy for lysosomal storage diseases. Mol Ther. 2006; 13(5):839-49. DOI: 10.1016/j.ymthe.2006.01.006. View

Di Fruscio G, Schulz A, De Cegli R, Savarese M, Mutarelli M, Parenti G . Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. Autophagy. 2015; 11(6):928-38. PMC: 4502703. DOI: 10.1080/15548627.2015.1043077. View

Paciotti S, Persichetti E, Pagliardini S, Deganuto M, Rosano C, Balducci C . First pilot newborn screening for four lysosomal storage diseases in an Italian region: identification and analysis of a putative causative mutation in the GBA gene. Clin Chim Acta. 2012; 413(23-24):1827-31. DOI: 10.1016/j.cca.2012.07.011. View

Lachmann R . Enzyme replacement therapy for lysosomal storage diseases. Curr Opin Pediatr. 2011; 23(6):588-93. DOI: 10.1097/MOP.0b013e32834c20d9. View

10.

Kishnani P, Tarnopolsky M, Roberts M, Sivakumar K, Dasouki M, Dimachkie M . Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α. Mol Ther. 2017; 25(5):1199-1208. PMC: 5417791. DOI: 10.1016/j.ymthe.2017.02.017. View

11.

Marques A, Saftig P . Lysosomal storage disorders - challenges, concepts and avenues for therapy: beyond rare diseases. J Cell Sci. 2019; 132(2). DOI: 10.1242/jcs.221739. View

12.

In t Groen S, de Faria D, Iuliano A, van den Hout J, Douben H, Dijkhuizen T . Novel Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis. Mol Ther Methods Clin Dev. 2020; 17:337-348. PMC: 7013133. DOI: 10.1016/j.omtm.2019.12.016. View

13.

Carrasco-Rozas A, Fernandez-Simon E, Lleixa M, Belmonte I, Pedrosa-Hernandez I, Montiel-Morillo E . Identification of serum microRNAs as potential biomarkers in Pompe disease. Ann Clin Transl Neurol. 2019; 6(7):1214-1224. PMC: 6649638. DOI: 10.1002/acn3.50800. View

14.

Chien Y, Bodamer O, Chiang S, Mascher H, Hung C, Hwu W . Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation. J Inherit Metab Dis. 2012; 36(5):881-5. DOI: 10.1007/s10545-012-9547-1. View

15.

Ferreira C, Gahl W . Lysosomal storage diseases. Transl Sci Rare Dis. 2017; 2(1-2):1-71. PMC: 5685203. DOI: 10.3233/TRD-160005. View

16.

Friedman E . Next generation sequencing for newborn screening: are we there yet?. Genet Res (Camb). 2015; 97:e17. PMC: 6863637. DOI: 10.1017/S001667231500018X. View

17.

van der Wal E, Bergsma A, Pijnenburg J, van der Ploeg A, Pijnappel W . Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease. Mol Ther Nucleic Acids. 2017; 7:90-100. PMC: 5415969. DOI: 10.1016/j.omtn.2017.03.001. View

18.

Kingma S, Bodamer O, Wijburg F . Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening. Best Pract Res Clin Endocrinol Metab. 2015; 29(2):145-57. DOI: 10.1016/j.beem.2014.08.004. View

19.

Wang N, Zhang Y, Gedvilaite E, Loh J, Lin T, Liu X . Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology. Hum Mutat. 2017; 38(11):1491-1499. PMC: 8461990. DOI: 10.1002/humu.23291. View

20.

Eisenstein M . Lysosomal storage disorders: 4 big questions. Nature. 2016; 537(7621):S165. DOI: 10.1038/537S165a. View