A Missense Variant in AIFM1 Caused Mitochondrial Dysfunction and Intolerance to Riboflavin Deficiency

Alston, C. L., Rocha, M. C., Lax, N. Z., Turnbull, D. M., & Taylor, R. W. (2017). The genetics and pathology of mitochondrial disease. The Journal of Pathology, 241(2), 236–250. https://doi.org/10.1002/path.4809

Article  CAS  PubMed  Google Scholar 

Annesley, S. J., & Fisher, P. R. (2019). Mitochondria in health and disease. Cells, 8(7), 680. https://doi.org/10.3390/cells8070680

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ardissone, A., Piscosquito, G., Legati, A., Langella, T., Lamantea, E., Garavaglia, B., et al. (2015). A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders. Neurology, 84(21), 2193–2195. https://doi.org/10.1212/WNL.0000000000001613

Article  PubMed  PubMed Central  Google Scholar 

Balasubramaniam, S., Christodoulou, J., & Rahman, S. (2019). Disorders of riboflavin metabolism. Journal of Inherited Metabolic Disease, 42(4), 608–619. https://doi.org/10.1002/jimd.12058

Article  CAS  PubMed  Google Scholar 

Balasubramaniam, S., & Yaplito-Lee, J. (2020). Riboflavin metabolism: Role in mitochondrial function. Journal of Translational Genetics and Genomics. https://doi.org/10.20517/jtgg.2020.34

Article  Google Scholar 

Bano, D., & Prehn, J. H. M. (2018). Apoptosis-Inducing Factor (AIF) in physiology and disease: The tale of a repented natural born killer. eBioMedicine, 30, 29–37. https://doi.org/10.1016/j.ebiom.2018.03.016

Article  PubMed  PubMed Central  Google Scholar 

Bogdanova-Mihaylova, P., Alexander, M. D., Murphy, R. P., Chen, H., Healy, D. G., Walsh, R. A., et al. (2019). Clinical spectrum of AIFM1-associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness. Journal of the Peripheral Nervous System: JPNS, 24(4), 348–353. https://doi.org/10.1111/jns.12348

Article  CAS  PubMed  Google Scholar 

Diodato, D., Tasca, G., Verrigni, D., D’Amico, A., Rizza, T., Tozzi, G., et al. (2016). A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease. European Journal of Human Genetics: EJHG, 24(3), 463–466. https://doi.org/10.1038/ejhg.2015.141

Article  CAS  PubMed  Google Scholar 

Dubowitz, V., Sewry, C. A., & Oldfors, A. (2020). Muscle biopsy a practical approach. Elsevier. https://doi.org/10.1016/C2016-0-00124-9

Book  Google Scholar 

Elrharchi, S., Riahi, Z., Salime, S., Charoute, H., Elkhattabi, L., Boulouiz, R., et al. (2020). Novel mutation in AIFM1 gene associated with X-linked deafness in a Moroccan family. Human Heredity, 85(1), 35–39. https://doi.org/10.1159/000512712

Article  CAS  PubMed  Google Scholar 

Ghezzi, D., Sevrioukova, I., Invernizzi, F., Lamperti, C., Mora, M., D’Adamo, P., et al. (2010). Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. American Journal of Human Genetics, 86(4), 639–649. https://doi.org/10.1016/j.ajhg.2010.03.002

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gorman, G. S., Chinnery, P. F., DiMauro, S., Hirano, M., Koga, Y., McFarland, R., et al. (2016). Mitochondrial diseases. Nature Reviews Disease Primers, 2, 16080. https://doi.org/10.1038/nrdp.2016.80

Article  PubMed  Google Scholar 

Hangen, E., Blomgren, K., Bénit, P., Kroemer, G., & Modjtahedi, N. (2010). Life with or without AIF. Trends in Biochemical Sciences, 35(5), 278–287. https://doi.org/10.1016/j.tibs.2009.12.008

Article  CAS  PubMed  Google Scholar 

Hangen, E., Féraud, O., Lachkar, S., Mou, H., Doti, N., Fimia, G. M., et al. (2015). Interaction between AIF and CHCHD4 regulates respiratory chain biogenesis. Molecular Cell, 58(6), 1001–1014. https://doi.org/10.1016/j.molcel.2015.04.020

Article  CAS  PubMed  Google Scholar 

Heimer, G., Eyal, E., Zhu, X., Ruzzo, E. K., Marek-Yagel, D., Sagiv, D., et al. (2018). Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin. European Journal of Paediatric Neurology: EJPN: Official Journal of the European Paediatric Neurology Society, 22(1), 93–101. https://doi.org/10.1016/j.ejpn.2017.09.004

Article  CAS  PubMed  Google Scholar 

Herrmann, J. M., & Riemer, J. (2021). Apoptosis inducing factor and mitochondrial NADH dehydrogenases: Redox-controlled gear boxes to switch between mitochondrial biogenesis and cell death. Biological Chemistry, 402(3), 289–297. https://doi.org/10.1515/hsz-2020-0254

Article  CAS  PubMed  Google Scholar 

Ji, K., Lin, Y., Xu, X., Wang, W., Wang, D., Zhang, C., et al. (2022). MELAS-associated m.5541C>T mutation caused instability of mitochondrial tRNA(Trp) and remarkable mitochondrial dysfunction. Journal of Medical Genetics, 59(1), 79–87. https://doi.org/10.1136/jmedgenet-2020-107323

Article  CAS  PubMed  Google Scholar 

Joosten, V., & van Berkel, W. J. H. (2007). Flavoenzymes. Current Opinion in Chemical Biology, 11(2), 195–202.

Article  CAS  PubMed  Google Scholar 

Kettwig, M., Schubach, M., Zimmermann, F. A., Klinge, L., Mayr, J. A., Biskup, S., et al. (2015). From ventriculomegaly to severe muscular atrophy: Expansion of the clinical spectrum related to mutations in AIFM1. Mitochondrion, 21, 12–18. https://doi.org/10.1016/j.mito.2015.01.001

Article  CAS  PubMed  Google Scholar 

Liu, L., Li, J., Ke, Y., Zeng, X., Gao, J., Ba, X., et al. (2022). The key players of parthanatos: Opportunities for targeting multiple levels in the therapy of parthanatos-based pathogenesis. Cellular and Molecular Life Sciences: CMLS, 79(1), 60. https://doi.org/10.1007/s00018-021-04109-w

Article  CAS  PubMed  Google Scholar 

Ly, J. D., Grubb, D. R., & Lawen, A. (2003). The mitochondrial membrane potential (deltapsi(m)) in apoptosis; an update. Apoptosis: An International Journal on Programmed Cell Death, 8(2), 115–128.

Article  CAS  PubMed  Google Scholar 

Miyake, N., Wolf, N. I., Cayami, F. K., Crawford, J., Bley, A., Bulas, D., et al. (2017). X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1. Neurogenetics, 18(4), 185–194. https://doi.org/10.1007/s10048-017-0520-x

Article  CAS  PubMed  PubMed Central  Google Scholar 

Moss, T., May, M., Flanagan-Steet, H., Caylor, R., Jiang, Y.-H., McDonald, M., et al. (2021). Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked variant. Cold Spring Harbor Molecular Case Studies, 7(3), a006081. https://doi.org/10.1101/mcs.a006081

Article  CAS  PubMed  PubMed Central  Google Scholar 

Reers, M., Smiley, S. T., Mottola-Hartshorn, C., Chen, A., Lin, M., & Chen, L. B. (1995). Mitochondrial membrane potential monitored by JC-1 dye. Methods in Enzymology, 260, 406–417.

Article  CAS  PubMed  Google Scholar 

Ren, H., Lin, Y., Li, Y., Zhang, X., Wang, W., Xu, X., et al. (2022). Leber’s hereditary optic neuropathy plus dystonia caused by the mitochondrial ND1 gene m.4160 T > C mutation. Neurological Sciences: Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 43(9), 5581–5592. https://doi.org/10.1007/s10072-022-06165-x

Article  PubMed  Google Scholar 

Rinaldi, C., Grunseich, C., Sevrioukova, I. F., Schindler, A., Horkayne-Szakaly, I., Lamperti, C., et al. (2012). Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. American Journal of Human Genetics, 91(6), 1095–1102. https://doi.org/10.1016/j.ajhg.2012.10.008

Article  CAS  PubMed  PubMed Central  Google Scholar 

Smith, P. K., Krohn, R. I., Hermanson, G. T., Mallia, A. K., Gartner, F. H., Provenzano, M. D., et al. (1985). Measurement of protein using bicinchoninic acid. Analytical Biochemistry, 150(1), 76–85.

Article  CAS  PubMed  Google Scholar 

Susin, S. A., Lorenzo, H. K., Zamzami, N., Marzo, I., Snow, B. E., Brothers, G. M., et al. (1999). Molecular characterization of mitochondrial apoptosis-inducing factor. Nature, 397(6718), 441–446.

Article  CAS  PubMed  Google Scholar 

Taylor, S. C., & Posch, A. (2014). The design of a quantitative Western blot experiment. BioMed Research International. https://doi.org/10.1155/2014/361590

Article  PubMed  PubMed Central  Google Scholar 

Villegas, J., & McPhaul, M. (2005). Establishment and culture of human skin fibroblasts. Current Protocols in Molecular Biology, 71(1), 28–33. https://doi.org/10.1002/0471142727.mb2803s71

Article  Google Scholar 

Wang, H., Bing, D., Li, J., Xie, L., Xiong, F., Lan, L., et al. (2020). High frequency of variants and phenotype progression of auditory neuropathy in a Chinese population. Neural Plasticity, 2020, 5625768. https://doi.org/10.1155/2020/5625768

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zong, L., Guan, J., Ealy, M., Zhang, Q., Wang, D., Wang, H., et al. (2015). Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder. Journal of Medical Genetics, 52(8), 523–531. https://doi.org/10.1136/jmedgenet-2014-102961

Article  CAS  PubMed  Google Scholar 

留言 (0)

沒有登入
gif