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Causative Mutation Gene - Crossref

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Last Updated: 21 January 2023

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An Aicardi-Goutières Syndrome–Causative Point Mutation in Adar1 Gene Invokes Multiorgan Inflammation and Late-Onset Encephalopathy in Mice

Abstract Irgenital inflammatory disorder is accompanied by overactivated type I IFN signaling and encephalopathy with leukodystrophy and intracranial calcification, leading to a chronic inflammatory disorder. Here, we established a mutant mouse model carrying a K948N point mutation, which corresponds to an AGS-causative K999N mutation that encodes an RNA editing enzyme. In vivo, we also showed that a K948N point mutation reduced ADAR1's RNA editing activity. The pathological abnormalities in Adar1K948N/K948N mice were ameliorated by either the simultaneous deletion of MDA5, a cytosolic sensor of unedited transcripts, or the sole expression of active ADAR1 p150, an isoform of ADAR1. Although the degree is mild, Adar1K948N/K948N mice mimic multiple AGS phenotypes, including encephalopathy, which is caused by reduced RNA editing activity in the ADAR1 p150 isoform, according to reports.

Source link: https://doi.org/10.4049/jimmunol.2100526


Atypical symptoms of malignant hyperthermia: A rare causative mutation in the RYR1 gene

Abstract: Hyperthermia is an autosomal dominant genetic disorder of the skeletal muscle that is triggered by inhaled general anesthetic agents or succinylcholine, and is associated with a hypermetabolic condition and muscle rigidity. Many experienced physicians have trouble diagnosing MH, which may lead to delays in diagnosis and elevated mortality as the course of the disease is variable or less apparent. We report a rare case of a 36-year-old man, who underwent open reduction and internal fixation of the left clavicle following inhaled anesthetics. A new mutation c. 8519G > A in the RYR1 gene that could be related to MH has been identified with MH. The gene mutation was also detected in his daughter's u2019s genetic examination, which was also confirmed in his daughter's genome test. This case highlighted the importance of recognizing MH and its atypical clinical signs. The presence of dyspnea, hypotension, unremitting hyperthermia, tachycardia, and elevated myoglobin in serum could exacerbate the clinical diagnosis of suspected MH.

Source link: https://doi.org/10.1515/med-2021-0396


A novel causative functional mutation in GATA6 gene is responsible for familial dilated cardiomyopathy as supported by in silico functional analysis

Abstract Dilated cardiomyopathy, one of the most common cardiomyopathies, has a heterogeneous appearance and can be seen in Mendelian forms. To determine the causative mutation of DCM in an Iranian pedigree, we used whole-exome sequencing and Sanger sequencing techniques. In all affected family members of the pedigree, we found a novel variant of the GATA6 gene, leading to the substitution of Histidine by Tyrosine at position 329, although it was not present in any of the unaffected ones. The H329Y mutation, according to We hypothesized that it may be responsible for this family's DCM family's familial pattern.

Source link: https://doi.org/10.1038/s41598-022-13993-6

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions