KaydedilenlerDerginizi ekleyin

Dergiler / Erciyes Medical Journal / 2021 / Cilt: 43 - Sayı: 3

A Transgenerational Genetic Marker of the AutismSpectrum Disorder

François CUZİN
Serpil TAHER
Yusuf ÖZKUL
Minoo RASSOULZADEGAN
Sayfa
214–220
Yayın Tarihi
2022-10-11
DOI
—
🏛️Bu makalenin bibliyografik verileri ve tam metin bağlantısı DergiPark üzerinden sağlanmıştır.
DergiPark Kaydı ↗
✨

Yapay Zeka Hızlı Bakış & Çıkarımlar

AI Insight
⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

On the clinical side, they offer the possibility ofa very early detection of the affected children.

📌 3 Maddede Bu Makale

🎯
Amaç & Hipotez:Autism spectrum disorder (ASD) is an increasingly frequent neurodevelopmental disorder.
📊
Temel Bulgular & Veri:The noncoding regulatory miRNAs are abun dant in the developing brain and abnormal levels of expression of several of them were found in tissues of ASD patients.Here, we discuss the previously published results and compare them with our recent data identifying 6 miRNAs whose bloodlevels are downregulated in ASD patients.
💡
Sonuç & Katkı:On the clinical side, they offer the possibility ofa very early detection of the affected children.
🔬Tür:Modelleme & Sayısal Simülasyon
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Abstract

Autism spectrum disorder (ASD) is an increasingly frequent neurodevelopmental disorder. A number of indications recentlypointed to abnormal distributions of microRNAs (miRNAs) in autistic patients. The noncoding regulatory miRNAs are abun dant in the developing brain and abnormal levels of expression of several of them were found in tissues of ASD patients.Here, we discuss the previously published results and compare them with our recent data identifying 6 miRNAs whose bloodlevels are downregulated in ASD patients. A similar although less pronounced decrease is hereditarily transmitted by theclinically unaffected parents of sick children and the sibling. Robustness of the finding was confirmed by similarly low levels ofthe six microRNAs in two established mouse models of the disease. Several hopeful avenues of research may be consideredfrom these results including molecular mechanisms from the regulation of the miRNAs to the identification of their targetgenes and the non-Mendelian mode of inheritance of the autism-prone state. On the clinical side, they offer the possibility ofa very early detection of the affected children.

🔖

Bu Makaleye Atıf Yap

CUZİN, F., TAHER, S., ÖZKUL, Y., RASSOULZADEGAN, M. (2022). A Transgenerational Genetic Marker of the AutismSpectrum Disorder. Erciyes Medical Journal, Cilt: 43 - Sayı: 3, 214–220. https://ajindex.com/articles/502190

📄 Tam Metin PDF Okuyucu

📄

PDF görüntüleyici hazırlanıyor...

Kaynakça (16)

  1. Iakoucheva LM, Muotri AR, Sebat J. Getting to the cores of autism. Cell 2019; 178(6): 1287–98
  2. Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, et al. Large-scale exome sequencing study ımplicates both developmental and functional changes in the neurobiology of autism. Cell 2020; 80(3): 568–84.e23
  3. Hicks SD, Middleton FA. A comparative review of microRNA expression patterns in autism spectrum disorder. Front Psychiatry 2016; 7: 176
  4. Auerbach BD, Osterweil EK, Bear MF. Mutations causing syndromic autism define an axis of synaptic pathophysiology. Nature 2011; 480(7375): 63–8
  5. Michaelson JJ, Shi Y, Gujral M, Zheng H, Malhotra D, Jin X, et al. Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell 2012; 151(7): 1431–42
  6. Takata A, Ionita-Laza I, Gogos JA, Xu B, Karayiorgou M. De novo synonymous mutations in regulatory elements contribute to the genetic etiology of autism and schizophrenia. Neuron 2016; 89: 940–7
  7. Trost B, Engchuan W, Nguyen CM, Thiruvahindrapuram B, Dolzhenko E, Backstrom I, et al. Genome-wide detection of tandem DNA repeats that are expanded in autism. Nature 2020; 586(7827): 80–6
  8. Glessner JT, Connolly JJ, Hakonarson H. Genome-wide association studies of autism. Curr Behav Neurosci Rep 2014; 1: 234–41
  9. Persico AM, Napolioni V. Autism genetics. Behav Brain Res 2013; 251: 95–112
  10. Ozkul Y, Taheri S, Bayram KK, Sener EF, Mehmetbeyoglu E, Öztop DB, et al. A heritable profile of six miRNAs in autistic patients and mouse models. Sci Rep 2020; 10(1): 9011
  11. Ronald A, Hoekstra RA. Autism spectrum disorders and autistic traits: A decade of new twin studies. Am J Med Genet B Neuropsychiatr Genet 2011; 156B(3): 255–74
  12. Schmitz-Abe K, Sanchez-Schmitz G, Doan RN, Hill RS, Chahrour MH, Mehta BK, et al. Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder. Sci Rep 2020; 10(1): 14045
  13. Sztainberg Y, Zoghbi HY. Lessons learned from studying syndromic autism spectrum disorders. Nat Neurosci 2016; 19(11): 1408–17
  14. Casanova EL, Sharp JL, Chakraborty H, Sumi NS, Casanova MF. Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression. Mol Autism 2016; 7: 18
  15. Kotu V, Deshpande B. Association analysis. Data Science, Concepts and Practice. 2nd edition. Morgan Kaufmann, 2019
  16. Bartel DP. MicroRNAs: Genomics, biogenesis, mechanism, and function. Cell 2004;