miRNA dysregulation in Duchenne muscular dystrophy comorbidities  

作　　者：Subhashree Sivakumar Archana Rajavel Venkataraman Viswanathan Evangeline Ann Daniel Prakash Gangadaran Raja Natesan Sella 

机构地区：[1]Department of Genetic Engineering,SRM Institute of Science and Technology,Chennai 603203,Tamil Nādu,India [2]Department of Pediatric Neurology,Apollo Children's Hospital,Chennai 600006,Tamil Nādu,India [3]Department of HIV/AIDS,National Institute for Research in Tuberculosis,Chennai 600031,Tamil Nādu,India [4]BK21 Four KNU Convergence Educational Program of Biomedical Sciences for Creative Future Talents,Department of Biomedical Science,School of Medicine,Kyungpook National University,Daegu 41944,South Korea [5]Department of Nuclear Medicine,School of Medicine,Kyungpook National University,Daegu 41944,South Korea [6]Cardiovascular Research Institute,School of Medicine,Kyungpook National University,Daegu 41944,South Korea

出　　处：《World Journal of Experimental Medicine》2025年第2期142-149,共8页世界实验医学杂志(英文)

摘　　要：BACKGROUND Duchenne muscular dystrophy(DMD)is a neuromuscular disorder caused by mutations in the dystrophin gene.DMD is reported to coexist with other comorbidities,although the occurrence of the triad,autism spectrum disorder(ASD),and epilepsy is very rare.Indeed,only one case of the triad has currently been reported.Here,we present a detailed case report of a ten-year-old boy with DMD,ASD,and epilepsy.We also investigated the dysregulation of miRNAs in this unusual triad(represented as DMD++)compared with a healthy individual and a DMD patient(represented as DMD+)without autism.AIM To understand the differential expression of miRNAs in rare comorbid DMD cases.METHODS The Sequin Form Board test,Gesell's drawing test,multiplex ligation probe amplification,and Vineland Social Maturity Scale were applied to confirm the DMD and ASD.Total RNA was isolated from samples using TRIzol.cDNA was synthesized using the Mir-X^(TM)miRNA First-Strand Synthesis kit.qRT-PCR was performed using SYBR Advantage qPCR Premix.The results were statistically analyzed using one-way analysis of variance with Tukey's ttest.RESULTS miR-146a-5p and miR-132-5p showed significant downregulation in both patient samples.miR-199a-5p and miR-146a-3p showed no change in expression between the diseased and controls.miR-132-3p showed downregulation only in the DMD+sample(0.21±0.04).The decrease in miR-132-3p can result in failed silencing of the phosphatase and tensin homolog-mediated apoptotic pathway,leading to severe skeletal muscle atrophy.Here,the downregulation of miR-132-3p in DMD+is consistent with severe muscle loss and higher disease progression than that in DMD++.DMD++has slower disease progression,and the expression of miRNA involved in inflammatory and apoptotic responses is more similar to that of the control.CONCLUSION Our study shows marked difference in miRNA expression in this rare case of DMD with autism and epilepsy.These miRNAs also serve as regulators of several muscle regeneration,apoptosis,and inflammatory pathways.This study

关 键 词：Duchenne muscular dystrophy DYSTROPHIN MIRNA Autism spectrum disorder Phosphatase and tensin Inflammatory response 

分 类 号：R746[医药卫生—神经病学与精神病学]