WU Huixiao, LI Zongyue, XU Chao, ZHAO Jiajun. Current Status, Opportunities and Challenges of Rare Endocrine and Metabolic Diseases[J]. Journal of Rare Diseases, 2023, 2(3): 319-324. DOI: 10.12376/j.issn.2097-0501.2023.03.001
Citation: WU Huixiao, LI Zongyue, XU Chao, ZHAO Jiajun. Current Status, Opportunities and Challenges of Rare Endocrine and Metabolic Diseases[J]. Journal of Rare Diseases, 2023, 2(3): 319-324. DOI: 10.12376/j.issn.2097-0501.2023.03.001

Current Status, Opportunities and Challenges of Rare Endocrine and Metabolic Diseases

Funds: 

National Natural Science Foundation of China 81974124

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  • Corresponding author:

    ZHAO Jiajun, E-mail: jjzhao@sdu.edu.cn

  • Received Date: June 10, 2023
  • Accepted Date: June 25, 2023
2097-0501/©2023 Editorial Office of Journal of Rare Diseases This is an open access article under the CC BY-NC-ND license (https://creativecommons.org/licenses/by-nc-nd/4.0/)
  • The rare endocrine and metabolic diseases, due to their varieties, face many challenges in the study of clinical diagnosis, pathogenesis, and treatment. In the past a couple of years, the research on rare endocrine and metabolic diseases has been gradually improved. The diagnosis has made great progress. The research into molecular mechanism of rare endocrine and metabolic diseases has significantly advanced. The effort in exploring the breakthroughs and progress in therapeutic methods based on the pathogenesis of the diseases has also made. This article provides a brief overview of the current status of research into diagnosis, mechanism, and treatment of rare endocrine and metabolic diseases. In addition, the article points out the problems and challenges and proposes future possibilities.

  • [1]
    Marwaha S, Knowles JW, Ashley EA. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome[J]. Genome Med, 2022, 14(1): 23. doi: 10.1186/s13073-022-01026-w
    [2]
    Johnstone C, Hendry C, Farley A, et al. Endocrine system: part 1[J]. Nurs Stand, 2014, 28(38): 42-49. doi: 10.7748/ns.28.38.42.e7471
    [3]
    Clark MM, Stark Z, Farnaes L, et al. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases[J]. NPJ Genom Med, 2018, 3: 16. doi: 10.1038/s41525-018-0053-8
    [4]
    Choi M, Scholl UI, Ji W, et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing[J]. Proc Natl Acad Sci USA, 2009, 106(45): 19096-19101. doi: 10.1073/pnas.0910672106
    [5]
    Wu H, Shu M, Liu C, et al. Identification and characterization of novel carboxyl ester lipase gene variants in patients with different subtypes of diabetes[J]. BMJ Open Diabetes Res Care, 2023, 11(1): e003127. doi: 10.1136/bmjdrc-2022-003127
    [6]
    Wu H, Wang Y, Chen X, et al. Cell-dependent pathogenic roles of filamin B in different skeletal malformations[J]. Oxid Med Cell Longev, 2022, 2022: 8956636.
    [7]
    Wright CF, Quaife NM, Ramos-Hernández L, et al. Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms[J]. Am J Hum Genet, 2021, 108(6): 1083-1094. doi: 10.1016/j.ajhg.2021.04.025
    [8]
    Pan Q, Liu YJ, Bai XF, et al. VARAdb: a compreh-ensive variation annotation database for human[J]. Nucleic Acids Res, 2021, 49(D1): D1431-D1444. doi: 10.1093/nar/gkaa922
    [9]
    Zhang W, Zhang H, Yang H, et al. Computational resources associating diseases with genotypes, phenotypes and exposures[J]. Brief Bioinform, 2019, 20(6): 2098-2115. doi: 10.1093/bib/bby071
    [10]
    McNeill A. Good genotype-phenotype relationships in rare disease are hard to find[J]. Eur J Hum Genet, 2022, 30(3): 251. doi: 10.1038/s41431-022-01062-5
    [11]
    Agarwal SK, Impey S, McWeeney S, et al. Distribution of menin-occupied regions in chromatin specifies a broad role of menin in transcriptional regulation[J]. Neoplasia, 2007, 9(2): 101-107. doi: 10.1593/neo.06706
    [12]
    Dreijerink KMA, Groner AC, Vos ESM, et al. Enhancer-mediated oncogenic function of the menin tumor suppressor in breast cancer[J]. Cell Rep, 2017, 18(10): 2359-2372. doi: 10.1016/j.celrep.2017.02.025
    [13]
    Brandi ML, Agarwal SK, Perrier ND, et al. Multiple endocrine neoplasia type 1: latest insights[J]. Endocr Rev, 2021, 42(2): 133-170. doi: 10.1210/endrev/bnaa031
    [14]
    El Hakam C, Parenté A, Baraige F, et al. PHEXL222P mutation increases phex expression in a new ENU mouse model for XLH disease[J]. Genes(Basel), 2022, 13(8): 1356.
    [15]
    Rossi V, Lee B, Marom R. Osteogenesis imperfecta: advancements in genetics and treatment[J]. Curr Opin Pediatr, 2019, 31(6): 708-715. doi: 10.1097/MOP.0000000000000813
    [16]
    Li Z, Wu H, Wei S, et al. R158Q and G212S, novel pathogenic compound heterozygous variants in SLC12A3 of Gitelman syndrome[J]. Front Med, 2022, 16(6): 932-945. doi: 10.1007/s11684-022-0963-9
    [17]
    Tambuyzer E, Vandendriessche B, Austin CP, et al. Therapies for rare diseases: therapeutic modalities, progress and challenges ahead[J]. Nat Rev Drug Discov, 2020, 19(2): 93-111. doi: 10.1038/s41573-019-0049-9
    [18]
    Imel EA, Glorieux FH, Whyte MP, et al. Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial[J]. Lancet, 2019, 393(10189): 2416-2427. doi: 10.1016/S0140-6736(19)30654-3
    [19]
    Hughes DA, Gonzalez DE, Lukina EA, et al. Velagluce-rase alfa (VPRIV) enzyme replacement therapy in patients with Gaucher disease: long-term data from phase Ⅲ clinical trials[J]. Am J Hematol, 2015, 90(7): 584-591. doi: 10.1002/ajh.24012
    [20]
    Diaz-Manera J, Kishnani PS, Kushlaf H, et al. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease(COMET): a phase 3, randomised, multicentre trial[J]. Lancet Neurol, 2021, 20(12): 1012-1026. doi: 10.1016/S1474-4422(21)00241-6
    [21]
    Brody H. Gene therapy[J]. Nature, 2018, 564(7735): S5. doi: 10.1038/d41586-018-07639-9
    [22]
    Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, et al. Cur-rent clinical applications of in vivo gene therapy with AAVs[J]. Mol Ther, 2021, 29(2): 464-488. doi: 10.1016/j.ymthe.2020.12.007
    [23]
    Russell S, Bennett J, Wellman JA, et al. Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial[J]. Lancet, 2017, 390(10097): 849-860. doi: 10.1016/S0140-6736(17)31868-8
    [24]
    Aiuti A, Roncarolo MG, Naldini L. Gene therapy for ADA-SCID, the first marketing approval of an ex vivo gene therapy in Europe: paving the road for the next generation of advanced therapy medicinal products[J]. EMBO Mol Med, 2017, 9(6): 737-740. doi: 10.15252/emmm.201707573
    [25]
    Oskoui M, Day JW, Deconinck N, et al. Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy(SMA)[J]. J Neurol, 2023, 270(5): 2531-2546. doi: 10.1007/s00415-023-11560-1
    [26]
    Ozelo MC, Mahlangu J, Pasi KJ, et al. Valoctocogene roxaparvovec gene therapy for hemophilia A[J]. N Engl J Med, 2022, 386(11): 1013-1025. doi: 10.1056/NEJMoa2113708
    [27]
    Hayashi Y, Sehara Y, Watano R, et al. Therapeutic strategy for Fabry disease by intravenous administration of adeno-associated virus 2 or 9 in alpha-galactosidase A-deficient mice[J]. J Gene Med, 2023. doi: 10.1002/jgm.3560.
    [28]
    Hughes MP, Nelvagal HR, Coombe-Tennant O, et al. A novel small NPC1 promoter enhances AAV-mediated gene therapy in mouse models of niemann-pick type C1 disease[J]. Cells, 2023, 12(12): 1619. doi: 10.3390/cells12121619
    [29]
    Nan Z, Shekels L, Ryabinin O, et al. Intracerebroventri-cular transplantation of human bone marrow-derived multipotent progenitor cells in an immunodeficient mouse model of mucopolysaccharidosis type Ⅰ(MPS-Ⅰ)[J]. Cell Transplant, 2012, 21(7): 1577-1593. doi: 10.3727/096368912X636894
    [30]
    Sinder BP, Novak S, Wee NKY, et al. Engraftment of skeletal progenitor cells by bone-directed transplantation improves osteogenesis imperfecta murine bone phenotype[J]. Stem Cells, 2020, 38(4): 530-541. doi: 10.1002/stem.3133
    [31]
    O'Brien SR, States LJ, Zhuang H. Neuroblastoma shown on 18F-DOPA PET/CT performed to evaluate congenital hyperinsulinism[J]. Clin Nucl Med, 2021, 46(11): 927-928. doi: 10.1097/RLU.0000000000003689
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