Next Article in Journal
PPARs and Microbiota in Skeletal Muscle Health and Wasting
Next Article in Special Issue
Prediction of Protein–ligand Interaction Based on Sequence Similarity and Ligand Structural Features
Previous Article in Journal
Enhancer of Zeste Homolog 2 (EZH2) Mediates Glucolipotoxicity-Induced Apoptosis in β-Cells
Previous Article in Special Issue
Gene Expression Regulation and Secretory Activity of Mesenchymal Stem Cells upon In Vitro Contact with Microarc Calcium Phosphate Coating
Open AccessReview

Current Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease

1
Laboratory of Mechanisms of Gene Expression, Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Sciences, Miklukho-Maklaya 16/10, 117997 Moscow, Russia
2
National Research Center “Kurchatov Institute”, 1, Academika Kurchatova pl., 123182 Moscow, Russia
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2020, 21(21), 8055; https://doi.org/10.3390/ijms21218055
Received: 30 September 2020 / Revised: 21 October 2020 / Accepted: 22 October 2020 / Published: 29 October 2020
(This article belongs to the Special Issue Medical Genetics, Genomics and Bioinformatics – 2020)
The neuronal ceroid lipofuscinoses (NCLs) collectively constitute one of the most common forms of inherited childhood-onset neurodegenerative disorders. They form a heterogeneous group of incurable lysosomal storage diseases that lead to blindness, motor deterioration, epilepsy, and dementia. Traditionally the NCL diseases were classified according to the age of disease onset (infantile, late-infantile, juvenile, and adult forms), with at least 13 different NCL varieties having been described at present. The current review focuses on classic juvenile NCL (JNCL) or the so-called Batten (Batten-Spielmeyer-Vogt; Spielmeyer-Sjogren) disease, which represents the most common and the most studied form of NCL, and is caused by mutations in the CLN3 gene located on human chromosome 16. Most JNCL patients carry the same 1.02-kb deletion in this gene, encoding an unusual transmembrane protein, CLN3, or battenin. Accordingly, the names CLN3-related neuronal ceroid lipofuscinosis or CLN3-disease sometimes have been used for this malady. Despite excessive in vitro and in vivo studies, the precise functions of the CLN3 protein and the JNCL disease mechanisms remain elusive and are the main subject of this review. Although the CLN3 gene is highly conserved in evolution of all mammalian species, detailed analysis of recent genomic and transcriptomic data indicates the presence of human-specific features of its expression, which are also under discussion. The main recorded to date changes in cell metabolism, to some extent contributing to the emergence and progression of JNCL disease, and human-specific molecular features of CLN3 gene expression are summarized and critically discussed with an emphasis on the possible molecular mechanisms of the malady appearance and progression. View Full-Text
Keywords: neuronal ceroid lipofuscinoses; juvenile Batten disease; JNCL; CLN3; CLN3 gene regulation; biomarker POLR2J2; molecular mechanisms neuronal ceroid lipofuscinoses; juvenile Batten disease; JNCL; CLN3; CLN3 gene regulation; biomarker POLR2J2; molecular mechanisms
Show Figures

Graphical abstract

MDPI and ACS Style

Shematorova, E.K.; Shpakovski, G.V. Current Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease. Int. J. Mol. Sci. 2020, 21, 8055. https://doi.org/10.3390/ijms21218055

AMA Style

Shematorova EK, Shpakovski GV. Current Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease. International Journal of Molecular Sciences. 2020; 21(21):8055. https://doi.org/10.3390/ijms21218055

Chicago/Turabian Style

Shematorova, Elena K.; Shpakovski, George V. 2020. "Current Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease" Int. J. Mol. Sci. 21, no. 21: 8055. https://doi.org/10.3390/ijms21218055

Find Other Styles
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

1
Search more from Scilit
 
Search
Back to TopTop