AI Networking Cookbook: Practical recipes for AI-assisted network automation and development
TL;DR
Exome sequencing of an Indian-specific HCM patient cohort was used and six heterozygous missense variants in unrelated patients were identified, highlighting a potential genetic risk associated with the AKT/mTOR/RICTOR axis in patients with HCM.
These studies suggest that targeting mTOR as a translationally relevant target for a mutation-induced hypertrophic cardiomyopathy, as well as demonstrating the utility of guiding precision therapies by iterating between network models and experimental validation, are suggested.
It is demonstrated that MAP3K7 variants can cause apparently isolated DCM, expanding the phenotypic spectrum of MAP3K7-related disorders, and establishing an association between MAP3K7 loss of function variants and DCM.
Overall, the genetic discoveries identify HCM as a disease of sarcomere proteins, which may reflect the oligogenic nature of HCM in a subset of cases, phenocopy conditions, including overdiagnosis of HCM, and the current approach to genetic screening.
It is suggested rigosertib normalizes and reverses RASopathy-associated HCM and other NS-associated syndromic features, supporting its development as a promising treatment for RAF1-associated HCM and, potentially, other RASopathy-dependent pathologies.
Unsupervised and supervised machine learning approaches distinguished HCM from dilated cardiomyopathy and accurately predicted genotype status in early-stage HCM from cell type-resolved transcriptional profiles, revealing widespread genotype-driven remodeling.
Most patients with MYH7-related HCM presented with a benign phenotype over the long term, and the risks of AF, SCD, and worsening HF throughout life justify regular monitoring, and the need to look for particular genetic profiles that may potentially help tailored management strategies.
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