Publications by authors named "J A Sanchez-Alcazar"
Article Synopsis
- * The diagnosis of PKAN relies on clinical observations, a specific brain MRI finding called the "eye of the tiger," and genetic testing for mutations in the pantothenate kinase 2 (PANK2) gene, which plays a crucial role in coenzyme A (CoA) production.
- * Research shows that combining multitarget supplements (like pantothenate, pantethine, omega-3, and vitamin E) with standard
Article Synopsis
- Mutations in the () gene cause a serious metabolic condition leading to symptoms like seizures, psychomotor delays, and severe lactic acidosis due to lipoylation defects in key enzyme complexes.
- Research using patient-derived fibroblasts and neurons revealed reduced levels of essential proteins and enzyme activities, resulting in cellular energy failure and damage.
- A combination of antioxidants and mitochondrial boosters was found to improve cell function and protein lipoylation, suggesting a potential treatment strategy for this genetic disorder, primarily through SIRT3 activation.
Article Synopsis
- AI platforms are important tools in genetics and medicine, helping to analyze lots of patient data and find new diseases.
- They are making it possible to better understand complex health issues and improve treatments for things like rare diseases and cancers.
- These technologies are helping doctors make better decisions for patient care, leading to more personalized and effective treatments.
Primary mitochondrial diseases result from mutations in nuclear DNA (nDNA) or mitochondrial DNA (mtDNA) genes, encoding proteins crucial for mitochondrial structure or function. Given that few disease-specific therapies are available for mitochondrial diseases, novel treatments to reverse mitochondrial dysfunction are necessary. In this work, we explored new therapeutic options in mitochondrial diseases using fibroblasts and induced neurons derived from patients with mutations in the gene.
View Article and Find Full Text PDFArticle Synopsis
- * The mitochondrial unfolded protein response (mtUPR) acts as a stress response to manage the accumulation of misfolded proteins within mitochondria, activating molecular chaperones and antioxidants to restore function.
- * Modulating mtUPR presents therapeutic potential for neurodegenerative diseases like Alzheimer's and Parkinson's, as evidence indicates it can reduce neurodegeneration and improve symptoms in various studies.