Plotegher 2017 Trends Mol Med
| Plotegher N, Duchen MR (2017) Mitochondrial dysfunction and neurodegeneration in lysosomal storage disorders. Trends Mol Med 23:116-34. |
Plotegher N, Duchen MR (2017) Trends Mol Med
Abstract: Lysosomal storage disorders (LSDs) are rare inherited debilitating and often fatal disorders. Caused by mutations affecting lysosomal proteins, LSDs are characterized by the accumulation of undegraded material in lysosomes and by lysosomal dysfunction. Although LSDs are multisystemic diseases, the majority display neurologic symptoms and neurodegeneration. Only recently has a role emerged for mitochondrial dysfunction in the pathophysiology of LSDs, suggesting an impact of lysosomal dysfunction on mitochondria. Moreover, mitochondrial damage may also cause lysosomal dysfunction, further supporting the activity of common signaling pathways and crosstalk between the two organelles. In this review we explore the mechanisms linking lysosomal and mitochondrial dysfunction to assess whether specific mitochondrial pathways represent a new therapeutic frontier in the management of LSDs. • Keywords: Review • Bioblast editor: Kandolf G • O2k-Network Lab: UK London Duchen MR
Labels: MiParea: Respiration
Pathology: Inherited, Neurodegenerative
Stress:Oxidative stress;RONS
Preparation: Intact cells, Isolated mitochondria
