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  A mouse model for intellectual disability caused by mutations in the X-linked 2'Omethyltransferase Ftsj1 gene

Jensen, L. R., Garrett, L., Holter, S. M., Rathkolb, B., Racz, I., Adler, T., et al. (2018). A mouse model for intellectual disability caused by mutations in the X-linked 2'Omethyltransferase Ftsj1 gene. Biochim Biophys Acta Mol Basis Dis, S0925-4439(18)30497-6. doi:10.1016/j.bbadis.2018.12.011.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0003-587A-2 Version Permalink: http://hdl.handle.net/21.11116/0000-0003-587B-1
Genre: Journal Article

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 Creators:
Jensen, L. R., Author
Garrett, L., Author
Holter, S. M., Author
Rathkolb, B., Author
Racz, I., Author
Adler, T., Author
Prehn, C., Author
Hans, W., Author
Rozman, J., Author
Becker, L., Author
Aguilar-Pimentel, J. A., Author
Puk, O., Author
Moreth, K., Author
Dopatka, M., Author
Walther, D. J., Author
von Bohlen Und Halbach, V., Author
Rath, M., Author
Delatycki, M., Author
Bert, B., Author
Fink, H., Author
Blumlein, K., AuthorRalser, M., AuthorVan Dijck, A., AuthorKooy, F., AuthorStark, Z., AuthorMuller, S., AuthorScherthan, H., AuthorGecz, J., AuthorWurst, W., AuthorWolf, E., AuthorZimmer, A., AuthorKlingenspor, M., AuthorGraw, J., AuthorKlopstock, T., AuthorBusch, D., AuthorAdamski, J., AuthorFuchs, H., AuthorGailus-Durner, V., Authorde Angelis, M. H., Authorvon Bohlen Und Halbach, O., AuthorRopers, H. H.1, Author              Kuss, A. W., Author more..
Affiliations:
1Emeritus Group of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385695              

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Free keywords: Ftsj1 Intellectual disability Mouse model X-linked tRNA methyltransferase
 Abstract: Mutations in the X chromosomal tRNA 2'Omethyltransferase FTSJ1 cause intellectual disability (ID). Although the gene is ubiquitously expressed affected individuals present no consistent clinical features beyond ID. In order to study the pathological mechanism involved in the aetiology of FTSJ1 deficiency-related cognitive impairment, we generated and characterized an Ftsj1 deficient mouse line based on the gene trapped stem cell line RRD143. Apart from an impaired learning capacity these mice presented with several statistically significantly altered features related to behaviour, pain sensing, bone and energy metabolism, the immune and the hormone system as well as gene expression. These findings show that Ftsj1 deficiency in mammals is not phenotypically restricted to the brain but affects various organ systems. Re-examination of ID patients with FTSJ1 mutations from two previously reported families showed that several features observed in the mouse model were recapitulated in some of the patients. Though the clinical spectrum related to Ftsj1 deficiency in mouse and man is variable, we suggest that an increased pain threshold may be more common in patients with FTSJ1 deficiency. Our findings demonstrate novel roles for Ftsj1 in maintaining proper cellular and tissue functions in a mammalian organism.

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Language(s): eng - English
 Dates: 2018-12-142018
 Publication Status: Published in print
 Pages: -
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 Identifiers: DOI: 10.1016/j.bbadis.2018.12.011
ISSN: 1879-260X (Electronic)0925-4439 (Print)
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Title: Biochim Biophys Acta Mol Basis Dis
Source Genre: Journal
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Pages: - Volume / Issue: - Sequence Number: S0925-4439(18)30497-6 Start / End Page: - Identifier: -