Molecular Dysregulation in Autism Spectrum Disorder

被引:10
作者
Gill, Pritmohinder S. [1 ,2 ]
Clothier, Jeffery L. [3 ]
Veerapandiyan, Aravindhan [4 ]
Dweep, Harsh [5 ]
Porter-Gill, Patricia A. [2 ]
Schaefer, G. Bradley [1 ,6 ,7 ]
机构
[1] Univ Arkansas Med Sci, Dept Pediat, Little Rock, AR 72202 USA
[2] Arkansas Childrens Res Inst, 13 Childrens Way, Little Rock, AR 72202 USA
[3] Univ Arkansas Med Sci, Psychiat Res Inst, Little Rock, AR 72205 USA
[4] Arkansas Childrens Hosp, Pediat Neurol, 1 Childrens Way, Little Rock, AR 72202 USA
[5] Wistar Inst Anat & Biol, 3601 Spruce St, Philadelphia, PA 19104 USA
[6] Univ Arkansas Med Sci, Genet & Pediat, Little Rock, AR 72202 USA
[7] Arkansas Childrens Hosp NW, Springdale, AR 72762 USA
来源
JOURNAL OF PERSONALIZED MEDICINE | 2021年 / 11卷 / 09期
关键词
autism spectrum disorder (ASD); genetic; copy number variation (CNV); epigenetic; knockout models; endophenotypes; pharmacogenomics; biomarker; COMMON GENETIC-VARIANTS; COPY NUMBER VARIATION; MOUSE MODELS; RISK; RARE; ENDOPHENOTYPES; MUTATIONS; REVEALS; RNA; REARRANGEMENTS;
D O I
10.3390/jpm11090848
中图分类号
R19 [保健组织与事业(卫生事业管理)];
学科分类号
摘要
Autism Spectrum Disorder (ASD) comprises a heterogeneous group of neurodevelopmental disorders with a strong heritable genetic component. At present, ASD is diagnosed solely by behavioral criteria. Advances in genomic analysis have contributed to numerous candidate genes for the risk of ASD, where rare mutations and s common variants contribute to its susceptibility. Moreover, studies show rare de novo variants, copy number variation and single nucleotide polymorphisms (SNPs) also impact neurodevelopment signaling. Exploration of rare and common variants involved in common dysregulated pathways can provide new diagnostic and therapeutic strategies for ASD. Contributions of current innovative molecular strategies to understand etiology of ASD will be explored which are focused on whole exome sequencing (WES), whole genome sequencing (WGS), microRNA, long non-coding RNAs and CRISPR/Cas9 models. Some promising areas of pharmacogenomic and endophenotype directed therapies as novel personalized treatment and prevention will be discussed.
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页数:16
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