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Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

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Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. / Haack, Tobias B; Makowski, Christine; Yao, Yoshiaki; Graf, Elisabeth; Hempel, Maja; Wieland, Thomas; Tauer, Ulrike; Ahting, Uwe; Mayr, Johannes A; Freisinger, Peter; Yoshimatsu, Hiroki; Inui, Ken; Strom, Tim M; Meitinger, Thomas; Yonezawa, Atsushi; Prokisch, Holger.

In: J INHERIT METAB DIS, Vol. 35, No. 6, 11.2012, p. 943-8.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Haack, TB, Makowski, C, Yao, Y, Graf, E, Hempel, M, Wieland, T, Tauer, U, Ahting, U, Mayr, JA, Freisinger, P, Yoshimatsu, H, Inui, K, Strom, TM, Meitinger, T, Yonezawa, A & Prokisch, H 2012, 'Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome', J INHERIT METAB DIS, vol. 35, no. 6, pp. 943-8. https://doi.org/10.1007/s10545-012-9513-y

APA

Haack, T. B., Makowski, C., Yao, Y., Graf, E., Hempel, M., Wieland, T., Tauer, U., Ahting, U., Mayr, J. A., Freisinger, P., Yoshimatsu, H., Inui, K., Strom, T. M., Meitinger, T., Yonezawa, A., & Prokisch, H. (2012). Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. J INHERIT METAB DIS, 35(6), 943-8. https://doi.org/10.1007/s10545-012-9513-y

Vancouver

Haack TB, Makowski C, Yao Y, Graf E, Hempel M, Wieland T et al. Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. J INHERIT METAB DIS. 2012 Nov;35(6):943-8. https://doi.org/10.1007/s10545-012-9513-y

Bibtex

@article{d8606d3274e6451eaa09b063e1d8e2b2,
title = "Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome",
abstract = "Brown-Vialetto-Van Laere syndrome (BVVLS [MIM 211530]) is a rare neurological disorder characterized by infancy onset sensorineural deafness and ponto-bulbar palsy. Mutations in SLC52A3 (formerly C20orf54), coding for riboflavin transporter 2 (hRFT2), have been identified as the molecular genetic correlate in several individuals with BVVLS. Exome sequencing of just one single case revealed that compound heterozygosity for two pathogenic mutations in the SLC52A2 gene coding for riboflavin transporter 3 (hRFT3), another member of the riboflavin transporter family, is also associated with BVVLS. Overexpression studies confirmed that the gene products of both mutant alleles have reduced riboflavin transport activities. While mutations in SLC52A3 cause decreased plasma riboflavin levels, concordant with a role of SLC52A3 in riboflavin uptake from food, the SLC52A2-mutant individual had normal plasma riboflavin concentrations, a finding in line with a postulated function of SLC52A2 in riboflavin uptake from blood into target cells. Our results contribute to the understanding of human riboflavin metabolism and underscore its role in the pathogenesis of BVVLS, thereby providing a rational basis for a high-dose riboflavin treatment.",
keywords = "Amino Acid Sequence, Base Sequence, Biological Transport, Active, Bulbar Palsy, Progressive, Child, Preschool, DNA Mutational Analysis, Female, Hearing Loss, Sensorineural, Humans, Membrane Transport Proteins, Models, Biological, Molecular Sequence Data, Mutation, Missense, Nerve Tissue Proteins, Receptors, G-Protein-Coupled, Riboflavin, Sequence Homology, Amino Acid, Syndrome",
author = "Haack, {Tobias B} and Christine Makowski and Yoshiaki Yao and Elisabeth Graf and Maja Hempel and Thomas Wieland and Ulrike Tauer and Uwe Ahting and Mayr, {Johannes A} and Peter Freisinger and Hiroki Yoshimatsu and Ken Inui and Strom, {Tim M} and Thomas Meitinger and Atsushi Yonezawa and Holger Prokisch",
year = "2012",
month = nov,
doi = "10.1007/s10545-012-9513-y",
language = "English",
volume = "35",
pages = "943--8",
journal = "J INHERIT METAB DIS",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "6",

}

RIS

TY - JOUR

T1 - Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

AU - Haack, Tobias B

AU - Makowski, Christine

AU - Yao, Yoshiaki

AU - Graf, Elisabeth

AU - Hempel, Maja

AU - Wieland, Thomas

AU - Tauer, Ulrike

AU - Ahting, Uwe

AU - Mayr, Johannes A

AU - Freisinger, Peter

AU - Yoshimatsu, Hiroki

AU - Inui, Ken

AU - Strom, Tim M

AU - Meitinger, Thomas

AU - Yonezawa, Atsushi

AU - Prokisch, Holger

PY - 2012/11

Y1 - 2012/11

N2 - Brown-Vialetto-Van Laere syndrome (BVVLS [MIM 211530]) is a rare neurological disorder characterized by infancy onset sensorineural deafness and ponto-bulbar palsy. Mutations in SLC52A3 (formerly C20orf54), coding for riboflavin transporter 2 (hRFT2), have been identified as the molecular genetic correlate in several individuals with BVVLS. Exome sequencing of just one single case revealed that compound heterozygosity for two pathogenic mutations in the SLC52A2 gene coding for riboflavin transporter 3 (hRFT3), another member of the riboflavin transporter family, is also associated with BVVLS. Overexpression studies confirmed that the gene products of both mutant alleles have reduced riboflavin transport activities. While mutations in SLC52A3 cause decreased plasma riboflavin levels, concordant with a role of SLC52A3 in riboflavin uptake from food, the SLC52A2-mutant individual had normal plasma riboflavin concentrations, a finding in line with a postulated function of SLC52A2 in riboflavin uptake from blood into target cells. Our results contribute to the understanding of human riboflavin metabolism and underscore its role in the pathogenesis of BVVLS, thereby providing a rational basis for a high-dose riboflavin treatment.

AB - Brown-Vialetto-Van Laere syndrome (BVVLS [MIM 211530]) is a rare neurological disorder characterized by infancy onset sensorineural deafness and ponto-bulbar palsy. Mutations in SLC52A3 (formerly C20orf54), coding for riboflavin transporter 2 (hRFT2), have been identified as the molecular genetic correlate in several individuals with BVVLS. Exome sequencing of just one single case revealed that compound heterozygosity for two pathogenic mutations in the SLC52A2 gene coding for riboflavin transporter 3 (hRFT3), another member of the riboflavin transporter family, is also associated with BVVLS. Overexpression studies confirmed that the gene products of both mutant alleles have reduced riboflavin transport activities. While mutations in SLC52A3 cause decreased plasma riboflavin levels, concordant with a role of SLC52A3 in riboflavin uptake from food, the SLC52A2-mutant individual had normal plasma riboflavin concentrations, a finding in line with a postulated function of SLC52A2 in riboflavin uptake from blood into target cells. Our results contribute to the understanding of human riboflavin metabolism and underscore its role in the pathogenesis of BVVLS, thereby providing a rational basis for a high-dose riboflavin treatment.

KW - Amino Acid Sequence

KW - Base Sequence

KW - Biological Transport, Active

KW - Bulbar Palsy, Progressive

KW - Child, Preschool

KW - DNA Mutational Analysis

KW - Female

KW - Hearing Loss, Sensorineural

KW - Humans

KW - Membrane Transport Proteins

KW - Models, Biological

KW - Molecular Sequence Data

KW - Mutation, Missense

KW - Nerve Tissue Proteins

KW - Receptors, G-Protein-Coupled

KW - Riboflavin

KW - Sequence Homology, Amino Acid

KW - Syndrome

U2 - 10.1007/s10545-012-9513-y

DO - 10.1007/s10545-012-9513-y

M3 - SCORING: Journal article

C2 - 22864630

VL - 35

SP - 943

EP - 948

JO - J INHERIT METAB DIS

JF - J INHERIT METAB DIS

SN - 0141-8955

IS - 6

ER -