ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation
7.3
来源：
Cell
关键字：
brain-computer interface
发布时间：
2025-09-09 03:30
摘要：
Adenylosuccinate lyase deficiency (ADSLd) is a rare genetic disorder characterized by mitochondrial dysfunction, which correlates with the severity of clinical manifestations. The study reveals that ADSL mutations lead to impaired mitochondrial respiration and dynamics, affecting tissues reliant on mitochondrial function. Notably, the research identifies alterations in ERK2 and AKT signaling pathways as critical factors in ADSLd pathology. Therapeutic strategies targeting these pathways, including purine supplementation, show promise in ameliorating mitochondrial defects, suggesting new avenues for treatment in affected patients.
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关键证据
ADSL deficiency is linked to mitochondrial dysfunction and clinical severity.
ERK2 and AKT signaling pathways are impaired in ADSL deficiency.
Purine supplementation shows potential to rescue mitochondrial defects.
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AI评分总结
Adenylosuccinate lyase deficiency (ADSLd) is a rare genetic disorder characterized by mitochondrial dysfunction, which correlates with the severity of clinical manifestations. The study reveals that ADSL mutations lead to impaired mitochondrial respiration and dynamics, affecting tissues reliant on mitochondrial function. Notably, the research identifies alterations in ERK2 and AKT signaling pathways as critical factors in ADSLd pathology. Therapeutic strategies targeting these pathways, including purine supplementation, show promise in ameliorating mitochondrial defects, suggesting new avenues for treatment in affected patients.