Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q<sub>10</sub>

Kadoya, Takumi; Sakakibara, Azumi; Kitayama, Kana; Yamada, Yoshiaki; Higuchi, Shinji; Kawakita, Rie; Kawasaki, Yuki; Fujino, Mitsuhiro; Murakami, Yosuke; Shimura, Masaru; Murayama, Kei; Ohtake, Akira; Okazaki, Yasushi; Koga, Yasutoshi; Yorifuji, Tohru

doi:10.1515/jpem-2019-0205

Cited by 10 publications

(5 citation statements)

References 12 publications

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“…(i) Mitochondrial acyl-CoA dehydrogenase 9 (ACAD9) deficiency was demonstrated to improve with the use of coenzyme Q10 [ 54 ].…”

Section: Resultsmentioning

confidence: 99%

KGE-UNIT: toward the unification of molecular interactions prediction based on knowledge graph and multi-task learning on drug discovery

Zhang,

Zang,

Zhao

2024

Briefings in Bioinformatics

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The prediction of molecular interactions is vital for drug discovery. Existing methods often focus on individual prediction tasks and overlook the relationships between them. Additionally, certain tasks encounter limitations due to insufficient data availability, resulting in limited performance. To overcome these limitations, we propose KGE-UNIT, a unified framework that combines knowledge graph embedding (KGE) and multi-task learning, for simultaneous prediction of drug–target interactions (DTIs) and drug–drug interactions (DDIs) and enhancing the performance of each task, even when data availability is limited. Via KGE, we extract heterogeneous features from the drug knowledge graph to enhance the structural features of drug and protein nodes, thereby improving the quality of features. Additionally, employing multi-task learning, we introduce an innovative predictor that comprises the task-aware Convolutional Neural Network-based (CNN-based) encoder and the task-aware attention decoder which can fuse better multimodal features, capture the contextual interactions of molecular tasks and enhance task awareness, leading to improved performance. Experiments on two imbalanced datasets for DTIs and DDIs demonstrate the superiority of KGE-UNIT, achieving high area under the receiver operating characteristics curves (AUROCs) (0.942, 0.987) and area under the precision-recall curve ( AUPRs) (0.930, 0.980) for DTIs and high AUROCs (0.975, 0.989) and AUPRs (0.966, 0.988) for DDIs. Notably, on the LUO dataset where the data were more limited, KGE-UNIT exhibited a more pronounced improvement, with increases of 4.32$\%$ in AUROC and 3.56$\%$ in AUPR for DTIs and 6.56$\%$ in AUROC and 8.17$\%$ in AUPR for DDIs. The scalability of KGE-UNIT is demonstrated through its extension to protein–protein interactions prediction, ablation studies and case studies further validate its effectiveness.

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“…(i) Mitochondrial acyl-CoA dehydrogenase 9 (ACAD9) deficiency was demonstrated to improve with the use of coenzyme Q10 [ 54 ].…”

Section: Resultsmentioning

confidence: 99%

KGE-UNIT: toward the unification of molecular interactions prediction based on knowledge graph and multi-task learning on drug discovery

Zhang,

Zang,

Zhao

2024

Briefings in Bioinformatics

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show abstract

Section: Resultsmentioning

confidence: 99%

“…It acts as an electron transporter in the inner mitochondrial membrane, restoring redox balance and preventing mitochondrial ROS formation. It also reduces left ventricular outflow obstruction and ventricular tachycardia [94,95]. Chen et al (2015) discovered that 17b-estradiol improved myocardial diastolic function in HCM mice, suggesting that estrogen protects against disease progression [56].…”

Section: Emerging Therapeutic Strategiesmentioning

confidence: 99%

“…Coenzyme Q [9,94,95] CoQ is involved in the mitochondrial electron transport chain, where it aids in generating adenosine triphosphate (ATP), the cellular energy currency. Additionally, CoQ possesses antioxidant properties, shielding the mitochondria and the heart against damage caused by free radicals during the energy production process.…”

Section: Mitovit E [9]mentioning

confidence: 99%

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Genetic Mutations and Mitochondrial Redox Signaling as Modulating Factors in Hypertrophic Cardiomyopathy: A Scoping Review

Menezes Junior,

França-e-Silva,

Oliveira

et al. 2024

IJMS

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Hypertrophic cardiomyopathy (HCM) is a heart condition characterized by cellular and metabolic dysfunction, with mitochondrial dysfunction playing a crucial role. Although the direct relationship between genetic mutations and mitochondrial dysfunction remains unclear, targeting mitochondrial dysfunction presents promising opportunities for treatment, as there are currently no effective treatments available for HCM. This review adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis Extension for Scoping Reviews guidelines. Searches were conducted in databases such as PubMed, Embase, and Scopus up to September 2023 using “MESH terms”. Bibliographic references from pertinent articles were also included. Hypertrophic cardiomyopathy (HCM) is influenced by ionic homeostasis, cardiac tissue remodeling, metabolic balance, genetic mutations, reactive oxygen species regulation, and mitochondrial dysfunction. The latter is a common factor regardless of the cause and is linked to intracellular calcium handling, energetic and oxidative stress, and HCM-induced hypertrophy. Hypertrophic cardiomyopathy treatments focus on symptom management and complication prevention. Targeted therapeutic approaches, such as improving mitochondrial bioenergetics, are being explored. This includes coenzyme Q and elamipretide therapies and metabolic strategies like therapeutic ketosis. Understanding the biomolecular, genetic, and mitochondrial mechanisms underlying HCM is crucial for developing new therapeutic modalities.

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“…Hence, this micelle formulation can be effectively used to treat the side effects of these oxidative stress-inducing drugs. Furthermore, CoQ10 has been shown to be effective against cardiovascular diseases, different cancers, reproductive disorders, mitochondrial diseases, and Parkinson's disease [23][24][25][26], suggesting that the novel micellar formulation developed in this study might find application in these diseases.…”

Section: Discussionmentioning

confidence: 99%

Coenzyme Q10-Polyethylene Glycol Monostearate Nanoparticles: An Injectable Water-Soluble Formulation

Banshoya¹,

Nakamura²,

Tanaka³

et al. 2020

Antioxidants

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Therapeutic applications of coenzyme Q10 (CoQ10) are greatly limited by its lack of solubility in aqueous media. In this study, polyethylene glycol monostearate (stPEG) was used to construct micelles containing CoQ10 as a new formulation. The micellar formulations (stPEG/CoQ10) were prepared using five types of stPEG with 10, 25, 40, 55, and 140 PEG repeat units, respectively. The micellar preparation was simple, consisting of only stPEG and CoQ10. Next, we compared the physical properties and blood circulation of these micelles. The CoQ10 load of this formulation was approximately 15 w/w%. Based on the dynamic light scattering method, the average molecular size of the stPEG/CoQ10 micelles was approximately 15 to 60 nm. The zeta potentials of these micelles were approximately −10 to −25 mV. The micelles using stPEG25, 40, and 55 demonstrated high solubility in water. Furthermore, these micelles had in vitro antioxidant activity. On comparing the blood circulation of micelles using stPEG25, 40, 55, and 140, micelles using stPEG55 had a significantly higher circulation in blood. The stPEG55/CoQ10 micelle demonstrated a protective effect against acetaminophen-induced liver injury in mice. In conclusion, these data indicate that the intravenous administration of the stPEG/CoQ10 micellar aqueous formulation is of great value against oxidant stress.

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Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q₁₀

Cited by 10 publications

References 12 publications

KGE-UNIT: toward the unification of molecular interactions prediction based on knowledge graph and multi-task learning on drug discovery

KGE-UNIT: toward the unification of molecular interactions prediction based on knowledge graph and multi-task learning on drug discovery

Genetic Mutations and Mitochondrial Redox Signaling as Modulating Factors in Hypertrophic Cardiomyopathy: A Scoping Review

Coenzyme Q10-Polyethylene Glycol Monostearate Nanoparticles: An Injectable Water-Soluble Formulation

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Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q10

Cited by 10 publications

References 12 publications

KGE-UNIT: toward the unification of molecular interactions prediction based on knowledge graph and multi-task learning on drug discovery

KGE-UNIT: toward the unification of molecular interactions prediction based on knowledge graph and multi-task learning on drug discovery

Genetic Mutations and Mitochondrial Redox Signaling as Modulating Factors in Hypertrophic Cardiomyopathy: A Scoping Review

Coenzyme Q10-Polyethylene Glycol Monostearate Nanoparticles: An Injectable Water-Soluble Formulation

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Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q₁₀