Etiologi Down Syndrome

Oleh :

dr.Nailla Fariq Alfiani

Etiologi Down syndrome adalah adanya kromosom ekstra pada pasangan kromosom ke 21, (trisomi 21). Umumnya orang normal memiliki 46 kromosom, tetapi pengidap Down syndrome memiliki 47 kromosom. Faktor risiko Down syndrome adalah usia ibu yang lebih tua pada saat hamil.[1-3,10,15]

Trisomi 21 Non-disjunction

Trisomi 21 disebabkan karena salinan ekstra kromosom 21 berasal dari kegagalan pembelahan sel, yang dikenal sebagai non-disjunction, pada saat meiosis selama gametogenesis induk. Kegagalan lebih sering terjadi saat oogenesis daripada spermatogenesis. Adanya faktor risiko dan lamanya periode pematangan sel memberikan kesempatan terjadinya gangguan genetik dan lingkungan terakumulasi dalam oosit, yang meningkatkan risiko non-disjunction beberapa kali lipat.[10,15]

Referensi

1. Akhtar F, Bokhari SRA. Down syndrome . [Updated 2021 Dec 12]. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. https://www.ncbi.nlm.nih.gov/books/NBK526016/
2. Antonarakis SE, Skotko BG, Rafii MS, Strydom A, Pape SE, Bianchi DW, Sherman SL, Reeves RH. Down syndrome . Nat Rev Dis Primers. 2020 Feb 6;6(1):9. doi: 10.1038/s41572-019-0143-7. PMID: 32029743; PMCID: PMC8428796.
3. Mundakel GT. Down syndrome . Medscape. 2022. https://emedicine.medscape.com/article/943216-overview
7. CDC. Facts about Down syndrome . National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention. 2021. https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
8. Pusat Data dan Informasi Kementrian Kesehatan Republik Indonesia. Down syndrome. 2019. https://pusdatin.kemkes.go.id/resources/download/pusdatin/infodatin/infodatin-down-syndrom-2019-1.pdf
10. Irwanto, Wicaksono H., Ariefa A., Samosir SM. A-Z Down syndrome . Airlangga University Press. 2019. https://repository.unair.ac.id/89288/3/A-Z%20Sindrom%20Down_compressed.pdf
15. Pal U, Halder P, Ray A, Sarkar S, Datta S, Ghosh P, et al.The etiology of Down syndrome : Maternal MCM9 polymorphisms increase risk of reduced recombination and non-disjunction of chromosome 21 during meiosis I within oocyte. PLoS Genet, 2021. 17(3): e1009462. https://doi.org/10.1371/journal.pgen.1009462
16. Mahajan A, Sapehia D, Thakur S, et al. Effect of imbalance in folate and vitamin B12 in maternal/parental diet on global methylation and regulatory miRNAs. Sci Rep, 2019. 9, 17602. https://doi.org/10.1038/s41598-019-54070-9
17. George S, Viswanathan R, Sapkal GN. Molecular aspects of the teratogenesis of rubella virus. Biol Res, 2019. 52, 47. https://doi.org/10.1186/s40659-019-0254-3
18. Durkin MS, Yeargin-Allsopp M. Socioeconomic Status and Pediatric Neurologic Disorders: Current Evidence. Seminars in pediatric neurology, 2018. 27, 16–25. https://doi.org/10.1016/j.spen.2018.03.003
19. Fucà E, Costanzo F, Ursumando L, Vicari S. Parenting Stress in Mothers of Children and Adolescents with Down syndrome . Journal of Clinical Medicine. 2022; 11(5):1188. https://doi.org/10.3390/jcm11051188
20. Kimmel H. Improving healthy nutrition behavior in low socioeconomic pregnant women through dietitians. Wageningen University & Research. 2020. https://edepot.wur.nl/535214
21. Johnson NM, Hoffmann AR, Behlen JC, Lau C, Pendleton D, Harvey N, Shore R, Li Y, Chen J, Tian Y, Zhang R. Air pollution and children's health-a review of adverse effects associated with prenatal exposure from fine to ultrafine particulate matter. Environ Health Prev Med. 2021 Jul 12;26(1):72. doi: 10.1186/s12199-021-00995-5. PMID: 34253165; PMCID: PMC8274666.

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Etiologi Down Syndrome

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