Advanced searches left 3/3

Barth Syndrome - DOAJ

Summarized by Plex Scholar
Last Updated: 10 January 2023

* If you want to update the article please login/register

Barth Syndrome: Psychosocial Impact and Quality of Life Assessment

Methods: The current report examined caregiver- and self-reported mental stability, as well as QoL in a cohort of BTHS-affected patients and families. At enrollment and again during a follow-up period ranging from 6 to 36 months after baseline, participants completed the depression and anxiety sections of the Patient-Reported Outcomes Information System Short Form 8A and Health-related quality of life surveys, which included measures ranging from 6 to 36 months. According to the available caregiver-patient dyad data, there was a trend toward discordance between caregiver and self-reported outcomes. Conclusion: Our report provides valuable insight into the effects of BTHS' psychosocial and mental health problems. Implications of these findings include longitudinal examination of QoL and psychological testing in BTHS care to identify interventions that can have a dramatic effect on health status and disease course.

Source link: https://doi.org/10.3390/jcdd9120448


Prenatal case report of Barth syndrome caused by novel TAFAZZIN mutation: Clinical characteristics of fetal dilated cardiomyopathy with ascites

TAFAZZIN is the pathogenic gene of BTHS, which codes the tafazzin protein of the mitochondria's inner membrane, and a phosphatidyltransferase involved in cardiolipin remodeling and functional maturation. TAFAZZIN had the mutation c. 311A > C/p. His104Pro, and his mother was the carrier, as shown by initiation labor and complete exome sequencing analysis of fetal skin tissue. The stability of the local protein structure and protein expression were reduced during cellular synthesis and protein expression experiments on the His104Pro mutation, according to Molecular dynamics and protein expression experiments. In conclusion, the case reported in this review enriches our understanding of the TAFAZZIN mutation spectrum, and shows that His104Pro may lead to cardiac abnormalities in the early embryo. In a prenatal ultrasound, the possibility of BTHS should be considered when an abnormal cardiac structure or ascites appear.

Source link: https://doi.org/10.3389/fped.2022.1004485


Myocardial disturbances of intermediary metabolism in Barth syndrome

The immature CL remodeling in BTHS results in electron transport chain respiratory defects and supercomplex destabilization, thus lowering ATP production. U201d is a sewage artery that leads to poor heart disease and cardiovascular dysfunction. However, BTHS-related cardiomyopathy, as well as other mitochondrial enzymes involved in ATP manufacture, is also associated with several defects in intermediary energy metabolism, as CL associates with several mitochondrial enzymes involved in ATP manufacture.

Source link: https://doi.org/10.3389/fcvm.2022.981972


Stimulating myocardial pyruvate dehydrogenase activity fails to alleviate cardiac abnormalities in a mouse model of human Barth syndrome

Myocardial glucose oxidation rates were markedly reduced in a murine model of BTHS, owing to a decrease in the activity of pyruvate dehydrogenase, the rate-limiting enzyme of glucose oxidation, and short-hairpin RNA mediated knockdown of Tafazzin. In addition, TazKD mice had cardiac hypertrophy with minimal cardiac dysfunction. Since myocardial glucose oxidation stimulation has been shown to reduce diabetic cardiomyopathy and heart failure, we hypothesized that increasing PDH levels would eliminate the cardiac hypertrophy present in TazKD mice, we hypothesized that increasing PDH production would reduce cardiac hypertrophy. In all mice before and following 6-weeks of therapy, we used ultrasound echocardiography to determine cardiac function and left ventricular wall structure. DCA treatment improved glycemia in both TazKD mice and their WT littermates, as well as decreased PDH phosphorylation at both 3 of its inhibitory sites, consistent with systemic activation of PDH and glucose oxidation.

Source link: https://doi.org/10.3389/fcvm.2022.997352


Natural history comparison study to assess the efficacy of elamipretide in patients with Barth syndrome

Left ventricular stroke volume increased from baseline in patients with elamipretide but not so low in NHCs. Conclusions Overall, the research established a NHC for use in determining the efficacy of therapeutic interventions in patients with BTHS, and the findings show that elamipretide may have enriched natural heart function and functional capacity in patients with BTHS in comparison to NHC. Highlights from the research Elamipretide was found in BTHS by matching Natural History Control to evaluate elamipretide in BTHS Elamipretide's natural decline in heart function Elamipretide was associated with dramatic clinical changes in skeletal muscle and cardiovascular variables that were not present in NHCs The research found a NHC for use in determining therapeutic interventions in BTHS Elamipretide can be used to analyze physiological results in BTHS.

Source link: https://doi.org/10.1186/s13023-022-02469-5


The Effects of PPAR Stimulation on Cardiac Metabolic Pathways in Barth Syndrome Mice

Aim: The Tafazzin knockdown in mice is widely used to develop an experimental model of Barth syndrome that has dilated cardiomyopathy and reduced exercise capacity. We hypothesized that the introduction of PPAR signaling with PPAR agonist bezafibrate in TazKD mice may improve cardiac and skeletal muscle function. paraphrasedoutput:Methods: BF was also given to TazKD mice with rodent chow, as shown by the following: During this period, we elucidated the effects of PPAR stimulation on molecular pathways in TazKD hearts. Result: The effect of BF on metabolic pathways in TazKD mice was shown by determining the total transcriptome of the heart by RNA sequencing. BF alone did not improve the fitness capacity, however, the impaired exercise capacity in TazKD mice was greatly enhanced by continued voluntary running on the running wheel, significantly improved the exercise capacity.

Source link: https://doi.org/10.3389/fphar.2018.00318


Current Knowledge on the Role of Cardiolipin Remodeling in the Context of Lipid Oxidation and Barth Syndrome

Barth syndrome is a genetic disorder caused by variants of the TAFAZZIN gene. TAFAZZIN is a transacylase that catalyzes the second step in the cardiolipin remodeling pathway, preferentially turning saturated CL species into unsaturated CLs that are vulnerable to oxidation. Even in individuals with the same TAFAZZIN version, the pathological severity of BTHS varies greatly from one patient to another. Numerous BTHS studies have been found, ranging from yeast to human cell lines, indicating that cellular ROS accumulation may have played a role in BTHS pathogenesis. Although the exact mechanism of how oxidative stress contributes to pathogenesis is unknown, it is likely that CL oxidation plays a key role. In this study, we explore what is known about CL oxidation and provide a new perspective connecting ROS mitigation in the context of BTHS.

Source link: https://doi.org/10.3389/fmolb.2022.915301


Identification of a Novel Gene Mutation in a Family With X-Linked Dilated Cardiomyopathy Barth Syndrome

Mutations in the tafazzin gene on chromosome Xq28 are responsible for the Barth syndrome phenotype, which has resulted in a lack of function in the protein tafazzin enzyme that is essential mitochondrial phospholipid, a phospholipid that is a basic mitochondrial phospholipid. A novel mutation was identified in exon 5 of the TAZ gene, according to cellular analysis. PW174G, a female carrier in the family, was also discovered in this novel mutation c. 520T > G, pW174G. The substantial improvement in mutated protein leading to the BTHS phenotype was demonstrated by protein modeling and 3-dimensional structure of TAZ proteins.

Source link: https://doi.org/10.1177/2326409814567131


Barth Syndrome Cardiomyopathy: An Update

Barth syndrome is an X-linked mitochondrial lipid disorder caused by mutations in the TAFAZZIN gene, which encodes a mitochondrial acyltransferase/transacylase that is required for cardiolipin biosynthesis. Recently published Taz knockout mouse models provide useful experimental tools for investigating BTHS cardiomyopathy and testing potential therapeutic approaches.

Source link: https://doi.org/10.3390/genes13040656

* 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