American Journal of Human Genetics, volume 98, issue 6, pages 1130-1145
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency
Olsen Rikke H.
1
,
Koňaříková Eliška
2
,
Giancaspero Teresa A
3
,
Mosegaard Signe
1
,
Boczonadi Veronika
4
,
Matakovic Lavinija
5
,
Veauville-Merllié Alice
6
,
Terrile Caterina
7
,
Schwarzmayr Thomas
2
,
Haack Tobias B.
2
,
Auranen Mari
8
,
Leone Piero
3
,
Galluccio Michele
9
,
Imbard Apolline
10
,
Gutierrez Ríos Purificacion
11, 12
,
Palmfeldt Johan
1
,
Graf Elisabeth
7
,
Vianey-Saban Christine
6
,
Oppenheim Marcus
13
,
Schiff, MD, PhD Manuel
14, 15
,
Pichard Samia
16
,
Rigal Odile
17
,
Pyle Angela
4
,
Chinnery P. F.
11, 18
,
Konstantopoulou Vassiliki
19
,
Möslinger Dorothea
19
,
Feichtinger Rene G.
5
,
Talim Beril
20
,
Topaloglu H.
21
,
Coşkun Turgay
22
,
Gucer Safak
20
,
Botta Annalisa
23
,
Muntoni F.
24
,
Malena Adriana
24
,
Vergani Lodovica
24
,
Mazza Daniela
25
,
Zollino M.
25
,
Ghezzi D.
26
,
Acquaviva Cécile
6
,
Tyni Tiina
27
,
Boneh Avihu
28
,
MEITINGER THOMAS
2
,
Strom Tim M.
2
,
Gregersen Niels Henrik
1
,
Mayr Johannes
5
,
Horvath R.
4
,
BARILE M.
3
,
Prokisch Holger
2
4
Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine,Newcastle University, Newcastle-upon-Tyne NE1 3BZ, UK
|
5
Department of Paediatrics, Paracelsus Medical University, SALK Salzburg, 5020 Salzburg, Austria.
|
6
Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie et Pathologie Est, Centre Hospitalier Universitaire Lyon, 69500 Bron, France
|
7
Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany
|
10
Pharmacy Faculty, Paris Sud University, 92019 Chatenay-Malabry, France
|
11
Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK
|
12
Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide, 41013 Seville, Spain
|
13
Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London WCIN 3BG, UK
|
14
INSERM UMR 1141, Hôpital Robert Debré, 75019 Paris, France
|
15
Faculté de Médecine Denis Diderot, Université Paris Diderot (Paris 7), 75013 Paris, France
|
16
Reference Center for Inherited Metabolic Diseases, Robert-Debré Hospital, Assistance Publique – Hôpitaux de Paris, 75019 Paris, France
|
17
Biochemistry Hormonology Laboratory, Robert-Debré Hospital, 75019 Paris, France
|
25
Italy Institute of Medical Genetics, Catholic University of Roma, 00168 Rome, Italy.
|
26
28
Murdoch Childrens Research Institute and University of Melbourne, Melbourne, VIC 3010, Australia.
|
Publication type: Journal Article
Publication date: 2016-06-02
Journal:
American Journal of Human Genetics
Quartile SCImago
Q1
Quartile WOS
Q1
Impact factor: 9.8
ISSN: 00029297, 15376605
PubMed ID:
27259049
Genetics
Genetics (clinical)
Abstract
Multiple acyl-CoA dehydrogenase deficiencies (MADDs) are a heterogeneous group of metabolic disorders with combined respiratory-chain deficiency and a neuromuscular phenotype. Despite recent advances in understanding the genetic basis of MADD, a number of cases remain unexplained. Here, we report clinically relevant variants in FLAD1, which encodes FAD synthase (FADS), as the cause of MADD and respiratory-chain dysfunction in nine individuals recruited from metabolic centers in six countries. In most individuals, we identified biallelic frameshift variants in the molybdopterin binding (MPTb) domain, located upstream of the FADS domain. Inasmuch as FADS is essential for cellular supply of FAD cofactors, the finding of biallelic frameshift variants was unexpected. Using RNA sequencing analysis combined with protein mass spectrometry, we discovered FLAD1 isoforms, which only encode the FADS domain. The existence of these isoforms might explain why affected individuals with biallelic FLAD1 frameshift variants still harbor substantial FADS activity. Another group of individuals with a milder phenotype responsive to riboflavin were shown to have single amino acid changes in the FADS domain. When produced in E. coli, these mutant FADS proteins resulted in impaired but detectable FADS activity; for one of the variant proteins, the addition of FAD significantly improved protein stability, arguing for a chaperone-like action similar to what has been reported in other riboflavin-responsive inborn errors of metabolism. In conclusion, our studies identify FLAD1 variants as a cause of potentially treatable inborn errors of metabolism manifesting with MADD and shed light on the mechanisms by which FADS ensures cellular FAD homeostasis.
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- We do not take into account publications that without a DOI.
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Olsen R. H. et al. Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency // American Journal of Human Genetics. 2016. Vol. 98. No. 6. pp. 1130-1145.
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Olsen R. H. et al. Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency // American Journal of Human Genetics. 2016. Vol. 98. No. 6. pp. 1130-1145.
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TY - JOUR
DO - 10.1016/j.ajhg.2016.04.006
UR - https://doi.org/10.1016%2Fj.ajhg.2016.04.006
TI - Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency
T2 - American Journal of Human Genetics
AU - Olsen, Rikke H.
AU - Koňaříková, Eliška
AU - Giancaspero, Teresa A
AU - Mosegaard, Signe
AU - Boczonadi, Veronika
AU - Matakovic, Lavinija
AU - Veauville-Merllié, Alice
AU - Terrile, Caterina
AU - Schwarzmayr, Thomas
AU - Haack, Tobias B.
AU - Auranen, Mari
AU - Leone, Piero
AU - Galluccio, Michele
AU - Imbard, Apolline
AU - Gutierrez Ríos, Purificacion
AU - Palmfeldt, Johan
AU - Graf, Elisabeth
AU - Vianey-Saban, Christine
AU - Oppenheim, Marcus
AU - Schiff, MD, PhD, Manuel
AU - Pichard, Samia
AU - Rigal, Odile
AU - Pyle, Angela
AU - Chinnery, P. F.
AU - Konstantopoulou, Vassiliki
AU - Möslinger, Dorothea
AU - Feichtinger, Rene G.
AU - Talim, Beril
AU - Topaloglu, H.
AU - Coşkun, Turgay
AU - Gucer, Safak
AU - Botta, Annalisa
AU - Muntoni, F.
AU - Malena, Adriana
AU - Vergani, Lodovica
AU - Mazza, Daniela
AU - Zollino, M.
AU - Ghezzi, D.
AU - Acquaviva, Cécile
AU - Tyni, Tiina
AU - Boneh, Avihu
AU - MEITINGER, THOMAS
AU - Strom, Tim M.
AU - Gregersen, Niels Henrik
AU - Mayr, Johannes
AU - Horvath, R.
AU - BARILE, M.
AU - Prokisch, Holger
PY - 2016
DA - 2016/06/02 00:00:00
PB - Elsevier
SP - 1130-1145
IS - 6
VL - 98
PMID - 27259049
SN - 0002-9297
SN - 1537-6605
ER -
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@article{2016_Olsen,
author = {Rikke H. Olsen and Eliška Koňaříková and Teresa A Giancaspero and Signe Mosegaard and Veronika Boczonadi and Lavinija Matakovic and Alice Veauville-Merllié and Caterina Terrile and Thomas Schwarzmayr and Tobias B. Haack and Mari Auranen and Piero Leone and Michele Galluccio and Apolline Imbard and Purificacion Gutierrez Ríos and Johan Palmfeldt and Elisabeth Graf and Christine Vianey-Saban and Marcus Oppenheim and Manuel Schiff, MD, PhD and Samia Pichard and Odile Rigal and Angela Pyle and P. F. Chinnery and Vassiliki Konstantopoulou and Dorothea Möslinger and Rene G. Feichtinger and Beril Talim and H. Topaloglu and Turgay Coşkun and Safak Gucer and Annalisa Botta and F. Muntoni and Adriana Malena and Lodovica Vergani and Daniela Mazza and M. Zollino and D. Ghezzi and Cécile Acquaviva and Tiina Tyni and Avihu Boneh and THOMAS MEITINGER and Tim M. Strom and Niels Henrik Gregersen and Johannes Mayr and R. Horvath and M. BARILE and Holger Prokisch},
title = {Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency},
journal = {American Journal of Human Genetics},
year = {2016},
volume = {98},
publisher = {Elsevier},
month = {jun},
url = {https://doi.org/10.1016%2Fj.ajhg.2016.04.006},
number = {6},
pages = {1130--1145},
doi = {10.1016/j.ajhg.2016.04.006}
}
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Olsen, Rikke H., et al. “Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.” American Journal of Human Genetics, vol. 98, no. 6, Jun. 2016, pp. 1130-1145. https://doi.org/10.1016%2Fj.ajhg.2016.04.006.