title: ÐÐ½Ð°Ð»Ð¸Ð· ÑÐºÑÐ¿ÑÐµÑÑÐ¸Ð¸ Ð³ÐµÐ½Ð¾Ð² Ð² Ð¼ÑÑÐµÑÐ½ÑÑ Ð¾Ð±ÑÐ°Ð·ÑÐ°Ñ Ñ Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐ¾Ð² Ñ Ð´Ð¸Ð°Ð³Ð½Ð¾Ð·Ð¾Ð¼ ÐÑÑÑÐ¾Ð³ÑÐ¸Ð¿Ð¾Ð·
title: Ð²ÑÐ¿ÑÑÐºÐ½Ð°Ñ ÐºÐ²Ð°Ð»Ð¸ÑÐ¸ÐºÐ°ÑÐ¸Ð¾Ð½Ð½Ð°Ñ ÑÐ°Ð±Ð¾ÑÐ° Ð±Ð°ÐºÐ°Ð»Ð°Ð²ÑÐ°
titleType: Subtitle
title: Analysis of Gene Expression in Muscle Samples from patients diagnosed with Arthrogryposis
Creators: name: Ð¢ÐºÐ°ÑÐµÐ²Ð°, ÐÑÐ¸Ð½Ð°
Publisher: name: Ð¡Ð°Ð½ÐºÑ-ÐÐµÑÐµÑÐ±ÑÑÐ³ÑÐºÐ¸Ð¹ Ð¿Ð¾Ð»Ð¸ÑÐµÑÐ½Ð¸ÑÐµÑÐºÐ¸Ð¹ ÑÐ½Ð¸Ð²ÐµÑÑÐ¸ÑÐµÑ ÐÐµÑÑÐ° ÐÐµÐ»Ð¸ÐºÐ¾Ð³Ð¾
Year: 2024
Subjects: Ð½ÐµÑÐ²Ð½Ð¾-Ð¼ÑÑÐµÑÐ½ÑÐµ Ð·Ð°Ð±Ð¾Ð»ÐµÐ²Ð°Ð½Ð¸Ñ
Ð°ÑÑÑÐ¾Ð³ÑÐ¸Ð¿Ð¾Ð·
Ð°Ð¼Ð¸Ð¾Ð¿Ð»Ð°Ð·Ð¸Ñ
ÑÑÐ°Ð½ÑÐºÑÐ¸Ð¿ÑÐ¾Ð¼Ð½ÑÐ¹ Ð°Ð½Ð°Ð»Ð¸Ð·
ÑÐºÑÐ¿ÑÐµÑÑÐ¸Ñ Ð³ÐµÐ½Ð¾Ð²
neuromuscular diseases
arthrogryposis
amyoplasia
transcriptome analysis
gene expression

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description: This work is dedicated to the transcriptomic analysis of patients diagnosed with amyoplasia and the study of processes associated with changes in gene expression. The main purpose of the study is to investigate the molecular mechanisms of amyoplasia development. Tasks that were solved in the course of the study: 1. Isolation of total RNA from muscle tissue fragments of patients with amyoplasia. 2. Preparation of RNA libraries for transcriptome analysis. 3. Analysis of transcriptome results after bioinformatic processing. The study employed molecular and genomic methods, including sequencing and bioinformatic data analysis. Muscle tissue samples from patients with amyoplasia were processed to isolate RNA. The isolated RNA was then used to create RNA libraries for further sequencing and transcriptome analysis. The research objects were muscle tissue samples obtained during surgical operations, provided by colleagues from the H.Turner National Medical Research Center for Ð¡hildrens Orthopedics and Trauma Surgery of the Ministry of Health of the Russian Federation. The work was carried out at the Laboratory of Experimental Genetics at the National Research Center "Kurchatov Institute" â PNPI. Gene analysis was performed using the ShinyGO 0.80 resource, utilizing databases such as Gene Ontology and KEGG. The study showed that the expression of 140 genes was increased, and the expression of 1473 genes was decreased (the threshold was more than a two-fold increase or decrease and a p-value after correction for multiple comparisons less than 0.05) compared to the control group, with the expression of 108 genes decreasing more than ten-fold. Biological processes with increased expression, such as mitochondrial dysfunction and oxidative metabolism, were examined. Disruptions in stem cell differentiation due to decreased expression of involved genes were identified, which may be associated with the development of muscle and neuromuscular diseases. The pathway of axon guidance and its signaling pathways was analyzed, which may be the suspected cause and one of the mechanisms of development of arthrogryposis, particularly amyoplasia.