Mitochondrial disorders(MIDs)are usually multisystem disorders(mitochondrial multiorgan disorder syndrome)either on from onset or starting at a point during the disease course.Most frequently affected tissues are thos...Mitochondrial disorders(MIDs)are usually multisystem disorders(mitochondrial multiorgan disorder syndrome)either on from onset or starting at a point during the disease course.Most frequently affected tissues are those with a high oxygen demand such as the central nervous system,the muscle,endocrine glands,or the myocardium.Recently,it has been shown that rarely alsothe arteries may be affected(mitochondrial arteriopathy).This review focuses on the type,diagnosis,and treat-ment of mitochondrial vasculopathy in MID patients.A literature search using appropriate search terms was carried out.Mitochondrial vasculopathy manifests as either microangiopathy or macroangiopathy.Clinical manifestations of mitochondrial microangiopathy include leukoencephalopathy,migraine-like headache,stroke-like episodes,or peripheral retinopathy.Mitochondrial macroangiopathy manifests as atherosclerosis,ectasia of arteries,aneurysm formation,dissection,or spontan-eous rupture of arteries.The diagnosis relies on the documentation and confirmation of the mitochondrial metabolic defect or the genetic cause after exclusion of non-MID causes.Treatment is not at variance compared to treatment of vasculopathy due to non-MID causes.Mitochondrial vasculopathy exists and manifests as micro-or macroangiopathy.Diagnosing mitochondrial vasculopathy is crucial since appropriate treatment may prevent from severe complications.展开更多
Alternative ribonucleic acid(RNA)splicing can lead to the assembly of different protein isoforms with distinctive functions.The outcome of alternative splicing(AS)can result in a complete loss of function or the acqui...Alternative ribonucleic acid(RNA)splicing can lead to the assembly of different protein isoforms with distinctive functions.The outcome of alternative splicing(AS)can result in a complete loss of function or the acquisition of new functions.There is a gap in knowledge of abnormal RNA splice variants promoting cancer stem cells(CSCs),and their prospective contribution in cancer progression.AS directly regulates the self-renewal features of stem cells(SCs)and stem-like cancer cells.Notably,octamer-binding transcription factor 4A spliced variant of octamerbinding transcription factor 4 contributes to maintaining stemness properties in both SCs and CSCs.The epithelial to mesenchymal transition pathway regulates the AS events in CSCs to maintain stemness.The alternative spliced variants of CSCs markers,including cluster of differentiation 44,aldehyde dehydrogenase,and doublecortin-like kinase,α6β1 integrin,have pivotal roles in increasing selfrenewal properties and maintaining the pluripotency of CSCs.Various splicing analysis tools are considered in this study.LeafCutter software can be considered as the best tool for differential splicing analysis and identification of the type of splicing events.Additionally,LeafCutter can be used for efficient mapping splicing quantitative trait loci.Altogether,the accumulating evidence re-enforces the fact that gene and protein expression need to be investigated in parallel with alternative splice variants.展开更多
To the Editor： With interest, we read the article by Kwon et al. about a single patient with Kearns-Sayre syndrome （KSS）, who successfully and without complications underwent peripheral nerve block for multiple mus...To the Editor： With interest, we read the article by Kwon et al. about a single patient with Kearns-Sayre syndrome （KSS）, who successfully and without complications underwent peripheral nerve block for multiple muscle biopsies. We have the following comments and concerns.展开更多
Background:Accumulating evidence shows that long non-coding RNAs(lncRNAs)play critical roles in cancer progression.The possible association between lncRNAs and herbal medicine is yet to be known.This study aims to ide...Background:Accumulating evidence shows that long non-coding RNAs(lncRNAs)play critical roles in cancer progression.The possible association between lncRNAs and herbal medicine is yet to be known.This study aims to identify medicinal herbs associated with lncRNAs by RNA-seq data for breast and prostate cancer.Methods:To develop the optimal approach for identifying cancer-related lncRNAs,we implemented two steps:(1)applying protein–protein interaction(PPI),Gene Ontology(GO),and pathway analyses,and(2)applying attribute weighting and finding the efficient classification model of the machine learning approach.Results:In the first step,GO terms and pathway analyses on differential co-expressed mRNAs revealed that lncRNAs were widely co-expressed with metabolic process genes.We identified two hub lncRNA-mRNA networks that implicate lncRNAs associated with breast and prostate cancer.In the second step,we implemented various machine learning-based prediction systems(Decision Tree,Random Forest,Deep Learning,and Gradient-Boosted Tree)on the non-transformed and Z-standardized differential co-expressed lncRNAs.Based on five-fold cross-validation,we obtained high accuracy(91.11%),high sensitivity(88.33%),and high specificity(93.33%)in Deep Learning which reinforces the biomarker power of identified lncRNAs in this study.As data originally came from different cell lines at different durations of herbal treatment intervention,we applied seven attribute weighting algorithms to check the effects of variables on identifying lncRNAs.Attribute weighting results showed that the cell line and time had little or no effect on the selected lncRNAs list.Besides,we identified one known lncRNAs,downregulated RNA in cancer(DRAIC),as an essential feature.Conclusions:This study will provide further insights to investigate the potential therapeutic and prognostic targets for prostate cancer(PC)and breast cancer(BC)in common.展开更多
To the Editor： With interest, we read the article reported by Liu et al. about the frequency of central and peripheral auditory system affection in 73 patients with a mitochondrial disorder （MID） due to mitochondri...To the Editor： With interest, we read the article reported by Liu et al. about the frequency of central and peripheral auditory system affection in 73 patients with a mitochondrial disorder （MID） due to mitochondrial DNA （rntDNA） point mutations or a single mtDNA deletion. We had the following comments and concerns.展开更多
To the Editor： We read with interest the article by Zhu et al. about a family with dilated cardiomyopathy （dCMP） and arterial hypertension （AHT） in four members being attributed to the m.8701A〉G variant in the A...To the Editor： We read with interest the article by Zhu et al. about a family with dilated cardiomyopathy （dCMP） and arterial hypertension （AHT） in four members being attributed to the m.8701A〉G variant in the ATP6 gene. We have the following comments and concerns.展开更多
To the Editor：With interest,we read the article by Yu et al.[1] about the clinical presentation and central nervous system （CNS） imaging in 19 patients with Kearns-Sayre syndrome （KSS）,of whom 12 were genetically...To the Editor：With interest,we read the article by Yu et al.[1] about the clinical presentation and central nervous system （CNS） imaging in 19 patients with Kearns-Sayre syndrome （KSS）,of whom 12 were genetically confirmed.We have the following comments and concerns.@@The main disadvantage of the study was that the diagnosis was not genetically confirmed in all patients and mitochondrial DNA （mtDNA） deletion was detected in only 63% patients,[1] What was the reason for seven KSS patients not undergoing genetic testing？Did not all patients undergo muscle biopsy？展开更多
Dear editor,Lung carcinoma is responsible for the highest fatal-ity rate among cancer-related deaths globally,with lung adenocarcinoma(LADC)emerging as the prevailing sub-type.
文摘Mitochondrial disorders(MIDs)are usually multisystem disorders(mitochondrial multiorgan disorder syndrome)either on from onset or starting at a point during the disease course.Most frequently affected tissues are those with a high oxygen demand such as the central nervous system,the muscle,endocrine glands,or the myocardium.Recently,it has been shown that rarely alsothe arteries may be affected(mitochondrial arteriopathy).This review focuses on the type,diagnosis,and treat-ment of mitochondrial vasculopathy in MID patients.A literature search using appropriate search terms was carried out.Mitochondrial vasculopathy manifests as either microangiopathy or macroangiopathy.Clinical manifestations of mitochondrial microangiopathy include leukoencephalopathy,migraine-like headache,stroke-like episodes,or peripheral retinopathy.Mitochondrial macroangiopathy manifests as atherosclerosis,ectasia of arteries,aneurysm formation,dissection,or spontan-eous rupture of arteries.The diagnosis relies on the documentation and confirmation of the mitochondrial metabolic defect or the genetic cause after exclusion of non-MID causes.Treatment is not at variance compared to treatment of vasculopathy due to non-MID causes.Mitochondrial vasculopathy exists and manifests as micro-or macroangiopathy.Diagnosing mitochondrial vasculopathy is crucial since appropriate treatment may prevent from severe complications.
文摘Alternative ribonucleic acid(RNA)splicing can lead to the assembly of different protein isoforms with distinctive functions.The outcome of alternative splicing(AS)can result in a complete loss of function or the acquisition of new functions.There is a gap in knowledge of abnormal RNA splice variants promoting cancer stem cells(CSCs),and their prospective contribution in cancer progression.AS directly regulates the self-renewal features of stem cells(SCs)and stem-like cancer cells.Notably,octamer-binding transcription factor 4A spliced variant of octamerbinding transcription factor 4 contributes to maintaining stemness properties in both SCs and CSCs.The epithelial to mesenchymal transition pathway regulates the AS events in CSCs to maintain stemness.The alternative spliced variants of CSCs markers,including cluster of differentiation 44,aldehyde dehydrogenase,and doublecortin-like kinase,α6β1 integrin,have pivotal roles in increasing selfrenewal properties and maintaining the pluripotency of CSCs.Various splicing analysis tools are considered in this study.LeafCutter software can be considered as the best tool for differential splicing analysis and identification of the type of splicing events.Additionally,LeafCutter can be used for efficient mapping splicing quantitative trait loci.Altogether,the accumulating evidence re-enforces the fact that gene and protein expression need to be investigated in parallel with alternative splice variants.
文摘To the Editor： With interest, we read the article by Kwon et al. about a single patient with Kearns-Sayre syndrome （KSS）, who successfully and without complications underwent peripheral nerve block for multiple muscle biopsies. We have the following comments and concerns.
文摘Background:Accumulating evidence shows that long non-coding RNAs(lncRNAs)play critical roles in cancer progression.The possible association between lncRNAs and herbal medicine is yet to be known.This study aims to identify medicinal herbs associated with lncRNAs by RNA-seq data for breast and prostate cancer.Methods:To develop the optimal approach for identifying cancer-related lncRNAs,we implemented two steps:(1)applying protein–protein interaction(PPI),Gene Ontology(GO),and pathway analyses,and(2)applying attribute weighting and finding the efficient classification model of the machine learning approach.Results:In the first step,GO terms and pathway analyses on differential co-expressed mRNAs revealed that lncRNAs were widely co-expressed with metabolic process genes.We identified two hub lncRNA-mRNA networks that implicate lncRNAs associated with breast and prostate cancer.In the second step,we implemented various machine learning-based prediction systems(Decision Tree,Random Forest,Deep Learning,and Gradient-Boosted Tree)on the non-transformed and Z-standardized differential co-expressed lncRNAs.Based on five-fold cross-validation,we obtained high accuracy(91.11%),high sensitivity(88.33%),and high specificity(93.33%)in Deep Learning which reinforces the biomarker power of identified lncRNAs in this study.As data originally came from different cell lines at different durations of herbal treatment intervention,we applied seven attribute weighting algorithms to check the effects of variables on identifying lncRNAs.Attribute weighting results showed that the cell line and time had little or no effect on the selected lncRNAs list.Besides,we identified one known lncRNAs,downregulated RNA in cancer(DRAIC),as an essential feature.Conclusions:This study will provide further insights to investigate the potential therapeutic and prognostic targets for prostate cancer(PC)and breast cancer(BC)in common.
文摘To the Editor： With interest, we read the article reported by Liu et al. about the frequency of central and peripheral auditory system affection in 73 patients with a mitochondrial disorder （MID） due to mitochondrial DNA （rntDNA） point mutations or a single mtDNA deletion. We had the following comments and concerns.
文摘To the Editor： We read with interest the article by Zhu et al. about a family with dilated cardiomyopathy （dCMP） and arterial hypertension （AHT） in four members being attributed to the m.8701A〉G variant in the ATP6 gene. We have the following comments and concerns.
文摘To the Editor：With interest,we read the article by Yu et al.[1] about the clinical presentation and central nervous system （CNS） imaging in 19 patients with Kearns-Sayre syndrome （KSS）,of whom 12 were genetically confirmed.We have the following comments and concerns.@@The main disadvantage of the study was that the diagnosis was not genetically confirmed in all patients and mitochondrial DNA （mtDNA） deletion was detected in only 63% patients,[1] What was the reason for seven KSS patients not undergoing genetic testing？Did not all patients undergo muscle biopsy？
基金This research was supported in part by the Japan Agency for Medical Research and Development(AMED)(JP15ck0106096 to TK)Japan Science and Tech-nology Agency(JST)Core Research for Evolutionary Science and Technology(JPMJCR1689 to RH)+5 种基金Artifi-cial Intelligence,Big Data,IoT,Cyber Security Integration Project of the Public/Private R&D Investment Strategic Expansion Program(JPMJCR18Y4 to RH)the Japan Soci-ety for the Promotion of Science(JSPS)Grant-in-Aid for Scientific Research(S)(17H06162 to HN),Grant-in-Aid for Scientific Research(B)(20H03695 to KS),Grants-in-Aid for the Tailor-Made Medical Treatment Program(BioBank Japan Project)from the Japanese Ministry of Education,Culture,Sports,ScienceandTechnology(MEXT),Princess Takamatsu Cancer Research Fund,and National Cancer Center Research and Development Fund(NCC Biobank and NCC Core Facility).The J-MICC study was supported by Grants-in-Aid for Scientific Research for Priority Areas of Cancer(No.17015018 to KW)Innovative Areas(No.221S0001 to KW)from MEXTby JSPS Grant-in-Aid for Scientific Research Grant(No.16H06277[CoBiA])The JPHC Study was supported by National Cancer Center Research and Development Fund since 2011(latest grant number:2020-J4)and a Grant-in-Aid for Cancer Research from the Ministry of Health,Labor and Welfare of Japan(1989-2010).ToMMoissupportedinpartbyMEXT-JSTand AMED(most recent grant numbers:JP20km0105001 and JP20km0105002)Iwate Tohoku Medical Megabank Orga-nization(Iwate Medical University)is supported in part by MEXT-JST and AMED(most recent grant numbers:JP20km0105003 and JP20km0105004).
文摘Dear editor,Lung carcinoma is responsible for the highest fatal-ity rate among cancer-related deaths globally,with lung adenocarcinoma(LADC)emerging as the prevailing sub-type.
