Muscle Diseases of Metabolic and Endocrine Derivation

Rheumato, Journal Year: 2025, Volume and Issue: 5(1), P. 2 - 2

Published: March 10, 2025

Muscle function and pathology are complex subjects; the medical fields involved in their diagnosis treatment represent rheumatology, physiatry metabolic disease, among others. While we, rheumatologists, concentrate our efforts predominantly on inflammatory varieties those associated with medications (e.g., corticosteroid statin use), we often “turn to” gatekeepers for identification of diagnostic category represented by a patient’s symptomatology. The broad base rheumatologic training prepares us recognition endocrinologically derived myopathy. This subject fundamentally biochemically myopathies form basis this review.

Language: Английский

Vulnerable Nucleotide Pools and Genomic Instability in Yeast Strains with Deletion of the ADE12 Gene Encoding for Adenylosuccinate Synthetase

International Journal of Molecular Sciences, Journal Year: 2025, Volume and Issue: 26(8), P. 3458 - 3458

Published: April 8, 2025

Adenylosuccinate synthetase (AdSS), encoded by the ADE12 gene in yeast Saccharomyces cerevisiae, plays a critical role purine biosynthesis, catalyzing conversion of inosine 5′-monophosphate (IMP) and aspartic acid to adenylosuccinate, substrate for following adenosine (AMP) synthesis step. Mutants lacking AdSS activity exhibit range pleiotropic phenotypes: slow growth, poor spore germination, accumulation, secretion hypoxanthine. We report new phenotypes ade12 mutants explain their molecular mechanisms. A GC-MS analysis showed that have highly altered metabolite profiles: accumulation IMP leads an impaired cellular energy metabolism, resulting dysregulation key processes—the metabolism nucleotides, carbohydrates, amino acids. These metabolic perturbations cell division arrest observed strains. slowed replication mutants, because insufficient availability energy, proteins, error-prone DNA polymerase ζ-dependent elevation spontaneous mutagenesis, connecting multiple roles with genome stability control.

Language: Английский