دورية أكاديمية
A comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene.
| العنوان: | A comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene. |
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| المؤلفون: | Wen B; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China., Tang R; Department of Pathology, Maternal and Child Health Hospital of Liaocheng, Liaocheng, 252000, Shandong, China., Tang S; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China., Sun Y; Department of Neurology, Qilu Hospital (Qingdao), Shandong University, Qingdao, 266035, Shandong, China., Xu J; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China., Zhao D; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China., Wang T; Department of Geriatric Medicine, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China. olivelwang@sdu.edu.cn., Yan C; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China. czyan@sdu.edu.cn.; Brain Science Research Institute, Shandong University, Jinan, 250012, Shandong, China. czyan@sdu.edu.cn. |
| المصدر: | Journal of human genetics [J Hum Genet] 2024 Apr; Vol. 69 (3-4), pp. 125-131. Date of Electronic Publication: 2024 Jan 17. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2009- : London : Nature Pub. Group Original Publication: Tokyo : Springer-Verlag, c1998- |
| مواضيع طبية MeSH: | Iron-Sulfur Proteins*/genetics , Lipid Metabolism, Inborn Errors* , Multiple Acyl Coenzyme A Dehydrogenase Deficiency*/diagnosis , Multiple Acyl Coenzyme A Dehydrogenase Deficiency*/drug therapy , Multiple Acyl Coenzyme A Dehydrogenase Deficiency*/genetics , Muscular Dystrophies* , Oxidoreductases Acting on CH-NH Group Donors*/genetics , Oxidoreductases Acting on CH-NH Group Donors*/metabolism, Humans ; Acyl Coenzyme A/genetics ; Acyl Coenzyme A/metabolism ; Acyl Coenzyme A/therapeutic use ; Electron-Transferring Flavoproteins/genetics ; Electron-Transferring Flavoproteins/metabolism ; Mutation ; Riboflavin/genetics ; Riboflavin/metabolism ; Riboflavin/therapeutic use |
| مستخلص: | Lipid storage myopathy (LSM) is a heterogeneous group of lipid metabolism disorders predominantly affecting skeletal muscle by triglyceride accumulation in muscle fibers. Riboflavin therapy has been shown to ameliorate symptoms in some LSM patients who are essentially concerned with multiple acyl-CoA dehydrogenation deficiency (MADD). It is proved that riboflavin responsive LSM caused by MADD is mainly due to ETFDH gene variant (ETFDH-RRMADD). We described here a case with riboflavin responsive LSM and MADD resulting from FLAD1 gene variants (c.1588 C > T p.Arg530Cys and c.1589 G > C p.Arg530Pro, FLAD1-RRMADD). And we compared our patient together with 9 FLAD1-RRMADD cases from literature to 106 ETFDH-RRMADD cases in our neuromuscular center on clinical history, laboratory investigations and pathological features. Furthermore, the transcriptomics study on FLAD1-RRMADD and ETFDH-RRMADD were carried out. On muscle pathology, both FLAD1-RRMADD and ETFDH-RRMADD were proved with lipid storage myopathy in which atypical ragged red fibers were more frequent in ETFDH-RRMADD, while fibers with faint COX staining were more common in FLAD1-RRMADD. Molecular study revealed that the expression of GDF15 gene in muscle and GDF15 protein in both serum and muscle was significantly increased in FLAD1-RRMADD and ETFDH-RRMADD groups. Our data revealed that FLAD1-RRMADD (p.Arg530) has similar clinical, biochemical, and fatty acid metabolism changes to ETFDH-RRMADD except for muscle pathological features. (© 2024. The Author(s), under exclusive licence to The Japan Society of Human Genetics.) |
| References: | Bruno C, Dimauro S. Lipid storage myopathies. Curr Opin Neurol. 2008;21:601–6. (PMID: 10.1097/WCO.0b013e32830dd5a618769256) Liang WC, Nishino I. Lipid storage myopathy. Curr Neurol Neurosci Rep. 2011;11:97–103. (PMID: 10.1007/s11910-010-0154-y21046290) Fryburg JS, Pelegano JP, Bennett MJ, Bebin EM. Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome. Am J Med Genet. 1994;52:97–102. (PMID: 10.1002/ajmg.13205201197977472) Tein I, Elpeleg O, Ben-Zeev B, Korman SH, Lossos A, Lev D, et al. Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin. Mol Genet Metab. 2008;93:179–89. (PMID: 10.1016/j.ymgme.2007.09.02118054510) Nilipour Y, Fatehi F, Sanatinia S, Bradshaw A, Duff J, Lochmuller H, et al. Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran. J Neurol Sci 2020;411:116707. (PMID: 10.1016/j.jns.2020.11670732007756) Lepori V, Muhlhause F, Sewell AC, Jagannathan V, Janzen N, Rosati M, et al. A Nonsense Variant in the ACADVL Gene in German Hunting Terriers with Exercise Induced Metabolic Myopathy. G3 (Bethesda). 2018;8:1545–54. (PMID: 10.1534/g3.118.20008429491033) Wen B, Dai T, Li W, Zhao Y, Liu S, Zhang C, et al. Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations. J Neurol Neurosurg Psychiatry. 2010;81:231–6. (PMID: 10.1136/jnnp.2009.17640419758981) Olsen RK, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M, Merinero B, et al. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain. 2007;130:2045–54. (PMID: 10.1093/brain/awm13517584774) Wen B, Tang S, Lv X, Li D, Xu J, Olsen RKJ, et al. Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study. Hum Mol Genet. 2022;31:1115–29. (PMID: 10.1093/hmg/ddab30834718578) Grunert SC. Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency. Orphanet J Rare Dis. 2014;9:117. (PMID: 10.1186/s13023-014-0117-5252000644222585) Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, Stroomer AE, et al. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis. 2011;34:159–64. (PMID: 10.1007/s10545-010-9242-z21110228) Schiff M, Veauville-Merllie A, Su CH, Tzagoloff A, Rak M, Ogier de Baulny H, et al. SLC25A32 mutations and riboflavin-responsive exercise intolerance. N. Engl J Med. 2016;374:795–7. (PMID: 10.1056/NEJMc1513610269338684867164) Mosegaard S, Bruun GH, Flyvbjerg KF, Bliksrud YT, Gregersen N, Dembic M, et al. An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Mol Genet Metab. 2017;122:182–8. (PMID: 10.1016/j.ymgme.2017.10.01429122468) Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, et al. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain. 2014;137:44–56. (PMID: 10.1093/brain/awt31524253200) Nimmo GAM, Ejaz R, Cordeiro D, Kannu P, Mercimek-Andrews S. Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency. Am J Med Genet A. 2018;176:399–403. (PMID: 10.1002/ajmg.a.3853029193829) Al Shamsi B, Al Murshedi F, Al Habsi A, Al-Thihli K. Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency. Eur J Hum Genet. 2022;30:976–9. Olsen RKJ, Konarikova E, Giancaspero TA, Mosegaard S, Boczonadi V, Matakovic L, et al. Riboflavin-responsive and -non-responsive mutations in FAD synthase cause multiple acyl-CoA dehydrogenase and combined respiratory-chain deficiency. Am J Hum Genet. 2016;98:1130–45. (PMID: 10.1016/j.ajhg.2016.04.006272590494908180) Mereis M, Wanders RJA, Schoonen M, Dercksen M, Smuts I, van der Westhuizen FH. Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies. Int J Biochem Cell Biol. 2021;132:105899. (PMID: 10.1016/j.biocel.2020.10589933279678) Yildiz Y, Olsen RKJ, Sivri HS, Akcoren Z, Nygaard HH, Tokatli A. Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy. Neuromuscul Disord. 2018;28:787–90. (PMID: 10.1016/j.nmd.2018.05.00930061063) Ryder B, Tolomeo M, Nochi Z, Colella M, Barile M, Olsen RK, et al. A novel truncating FLAD1 variant, causing multiple acyl-CoA dehydrogenase deficiency (MADD) in an 8-year-old boy. JIMD Rep. 2019;45:37–44. (PMID: 10.1007/8904_2018_13930311138) Auranen M, Paetau A, Piirila P, Pohju A, Salmi T, Lamminen A, et al. Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy. Neuromuscul Disord. 2017;27:581–4. (PMID: 10.1016/j.nmd.2017.03.00328433476) Lee YJ, Kim SY, Kim MJ, Kim AR, Lee JM, Chae JH. Infant with early onset bilateral facial and bulbar weakness: Successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants. Neuromuscul Disord. 2021;31:1194–8. (PMID: 10.1016/j.nmd.2021.07.00634454814) Vengalil S, Polavarapu K, Preethish-Kumar V, Nashi S, Arunachal G, Chawla T, et al. Mutation spectrum of primary lipid storage myopathies. Ann Indian Acad Neurol. 2022;25:106–13. (PMID: 10.4103/aian.aian_333_21353422668954319) Muru K, Reinson K, Kunnapas K, Lillevali H, Nochi Z, Mosegaard S, et al. FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening. Mol Genet Genom Med. 2019;7:e915. (PMID: 10.1002/mgg3.915) Yamada K, Ito M, Kobayashi H, Hasegawa Y, Fukuda S, Yamaguchi S, et al. Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report. Brain Dev. 2019;41:638–42. (PMID: 10.1016/j.braindev.2019.04.00230982706) Garcia-Villoria J, De Azua B, Tort F, Mosegaard S, Ugarteburu O, Texido L, et al. FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts. Clin Genet. 2018;94:592–3. (PMID: 10.1111/cge.1345230427553) Aguilar-Recarte D, Barroso E, Guma A, Pizarro-Delgado J, Pena L, Ruart M, et al. GDF15 mediates the metabolic effects of PPARbeta/delta by activating AMPK. Cell Rep. 2021;36:109501. (PMID: 10.1016/j.celrep.2021.10950134380027) Laurens C, Parmar A, Murphy E, Carper D, Lair B, Maes P, et al. Growth and differentiation factor 15 is secreted by skeletal muscle during exercise and promotes lipolysis in humans. JCI Insight. 2020;5:e131870. |
| معلومات مُعتمدة: | 81701058 National Natural Science Foundation of China (National Science Foundation of China); 81901278 National Natural Science Foundation of China (National Science Foundation of China); 82071412 National Natural Science Foundation of China (National Science Foundation of China) |
| المشرفين على المادة: | 0 (Acyl Coenzyme A) 0 (Electron-Transferring Flavoproteins) 0 (Iron-Sulfur Proteins) EC 1.5.- (Oxidoreductases Acting on CH-NH Group Donors) TLM2976OFR (Riboflavin) |
| SCR Disease Name: | Myopathy with Abnormal Lipid Metabolism |
| تواريخ الأحداث: | Date Created: 20240116 Date Completed: 20240328 Latest Revision: 20240328 |
| رمز التحديث: | 20240329 |
| DOI: | 10.1038/s10038-023-01216-3 |
| PMID: | 38228875 |
| قاعدة البيانات: | MEDLINE |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 1435-232X |
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| DOI: | 10.1038/s10038-023-01216-3 |