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1.
Syst Biol Reprod Med ; 70(1): 38-51, 2024 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38323618

RESUMO

Mitochondrial diseases are distinct types of metabolic and/or neurologic abnormalities that occur as a consequence of dysfunction in oxidative phosphorylation, affecting several systems in the body. There is no effective treatment modality for mitochondrial disorders so far, emphasizing the clinical significance of preventing the inheritance of these disorders. Various reproductive options are available to reduce the probability of inheriting mitochondrial disorders, including in vitro fertilization (IVF) using donated oocytes, preimplantation genetic testing (PGT), and prenatal diagnosis (PND), among which PGT not only makes it possible for families to have genetically-owned children but also PGT has the advantage that couples do not have to decide to terminate the pregnancy if a mutation is detected in the fetus. PGT for mitochondrial diseases originating from nuclear DNA includes analyzing the nuclear genome for the presence or absence of corresponding mutations. However, PGT for mitochondrial disorders arising from mutations in mitochondrial DNA (mtDNA) is more intricate, due to the specific characteristics of mtDNA such as multicopy nature, heteroplasmy phenomenon, and exclusive maternal inheritance. Therefore, the present review aims to discuss the utility and challenges of PGT as a preventive approach to inherited mitochondrial diseases caused by mtDNA mutations.


Assuntos
Doenças Mitocondriais , Diagnóstico Pré-Implantação , Gravidez , Feminino , Criança , Humanos , DNA Mitocondrial/genética , Doenças Mitocondriais/diagnóstico , Doenças Mitocondriais/genética , Doenças Mitocondriais/prevenção & controle , Testes Genéticos , Mitocôndrias , Fertilização in vitro
2.
Am J Transl Res ; 15(12): 6878-6887, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38186988

RESUMO

There is a serious worldwide health problem caused by chronic kidney disease (CKD), yet there are few viable therapies. Therapeutic promise in the treatment of chronic kidney disease (CKD) has been shown by the use of the traditional Chinese herbal compound Shengyang Yiwei Decoction (SYD). However, the chemical processes through which SYD exerts its effects are still unknown. The purpose of this network pharmacology research is to better understand the molecular mechanism of action of Shengyang Yiwei Decoction (SYD) in the treatment of chronic kidney disease (CKD). Traditional Chinese Medicine Systems Pharmacology (TCMSP) was first searched for information on the chemical components of Shengyang Yiwei Decoction. The molecular targets of SYD were then predicted using the Pharm Mapper service. After that, we used databases like DIG-SEE, TTD, and OMIM to zero down on the targets most closely linked to CKD. Cytoscape 3.2.1 was used to generate the component-target network representing SYD's therapy of CKD. In addition, KEGG signal pathways and GO biological processes were analyzed using the DAVID database, and the findings were displayed via OmicShare Tools. Twenty-two active components were isolated from Shengyang Yiwei Decoction, and they were linked to 36 therapeutic targets for CKD in the current investigation. According to the results of the network pharmacology study, 41 signaling pathways are involved in mediating the therapeutic effects of SYD. In addition, SYD's broad therapeutic impact in CKD therapy was shown to include 29 molecular activities, 14 cell components, and 91 biological processes. This research utilizes a multivariate analysis to provide light on the strategies and outcomes of treating CKD using Shengyang Yiwei Decoction. Clinical therapeutic methods for CKD management may benefit greatly from a thorough knowledge of the underlying processes and material foundation of this disease.

3.
Mitochondrial DNA B Resour ; 6(6): 1691-1693, 2021 May 19.
Artigo em Inglês | MEDLINE | ID: mdl-34104740

RESUMO

The complete mitochondrial genome of Aucklandia lappa was sequenced for the first time. The mitochondrial genome length was 320,439 bp, with 45.05% GC contents. There were 67 genes annotated, including 31 known protein-coding genes, 25 tRNAs, and six rRNAs. The maximum likelihood method was used to establish the phylogenetic tree of 37 species. Results have shown that A. lappa and Arctium lappa were sister groups. It reveals the genetic relationship between different species and provides a theoretical basis for the establishment of a classification system.

4.
Mitochondrial DNA B Resour ; 6(3): 779-781, 2021 Mar 11.
Artigo em Inglês | MEDLINE | ID: mdl-33763576

RESUMO

Aconitum kusnezoffii Rchb. is a medicinal plant in the Ranunculaceae family. In this study, we report the first complete mitochondrial genome of A. kusnezoffii. The total length of the mitochondrial genome of A. kusnezoffii is 440,720 bp and the GC content of 46.85%. The mitochondrial genome contained 37 protein-coding genes, 29 tRNAs, and three rRNAs. These data will provide the basis for the systematic evolutionary analysis of Ranunculaceae.

5.
Mitochondrial DNA B Resour ; 6(2): 475-477, 2021 Feb 09.
Artigo em Inglês | MEDLINE | ID: mdl-33628894

RESUMO

The complete mitochondrial genome of an important medicinal plant Glycyrrhiza uralensis Fisch. is reported for the first time. The mitochondrial genome sequence of G. uralensis was 463,869 bp in length and had a GC content of 45.19%. The genome contained 40 protein-coding genes (PCGs), 30 transfer RNAs (tRNAs), and three ribosomal RNAs (rRNAs). The phylogenetic tree was built based on 25 plants, using the maximum-likelihood method. These data will provide certain help to determine the taxonomic status of G. uralensis.

6.
Artigo em Chinês | MEDLINE | ID: mdl-26767259

RESUMO

OBJECTIVE: To clone and express Echinococcus granulosus pyruvate dehydrogenase (EgPDH) gene and analyze EgPDH protein with bioinformatics tools and online database. METHODS: The total RNAs of E. granulosus was extracted and reversely transcribed into cDNA. The EgPDH gene was cloned into pET28b to construct the recombinant vector and expressed in E. coli BL21 (DE3) system subsequently. The signal peptide, transmembrane helices and subcellular location in EgPDH sequence were analyzed by the online software SignalP4.1, TMHMM sever v.2.0 and TargetP1.1, respectively. Subsequently, the structure of EgPDH was predicted by SMART. Finally, the homologue sequence and conserved sites were aligned by using BLASTP and GeneDoc among the homologous sequences of EgPDH. Based on the alignment of PDH sequence, an evolutionary tree of E. granulosus and other species were constructed by the neighbor joining method of MEGA6 software. RESULTS: The EgPDH gene was successfully amplified from cDNA of E. granulosus and expressed in the soluble fractions. The bioinformatics analysis revealed that EgPDH was a classical secreted protein and contained transketolase domain. The homology analysis revealed that the amino acid sequence of EgPDH was highly conserved in catalytic sites Glu57, Leu72, Ile86 and Phe114. The phylogenetic tree analysis of PDH proteins showed the closest relationship between E. granulosus and E. multilocularis. CONCLUSION: An EgPDH gene is cloned and expressed successfully, and the recombinant protein is analyzed by the bioinformatics approaches and structure predication. The study provides useful information for further functional study of the EgPDH protein.


Assuntos
Biologia Computacional , Echinococcus granulosus/enzimologia , Cetona Oxirredutases/genética , Sequência de Aminoácidos , Animais , Clonagem Molecular , Cetona Oxirredutases/química , Cetona Oxirredutases/fisiologia , Dados de Sequência Molecular
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