Altered apoptosis regulation in Kufor-Rakeb syndrome patients with mutations in the ATP13A2 gene.
Bottom Line: The altered apoptotic pattern of subjects with mutated ATP13A2 suggests a correlation between apoptosis alteration and the mutated ATP13A2 protein.We hypothesize that ATP13A2 mutations may compromise protein function, disrupting cell cation balance and rendering cells prone to apoptosis.However, the deregulation of apoptosis in KRS patients displaying different disease severity suggested that the altered apoptotic pathway probably does not have a pathogenetic role in KRS by itself.
Affiliation: Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy.Show MeSH
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Mentions: After 1 hr of incubation with dRib, PBLs from controls and KRS patients (BA and BC) showed many brightly stained intact mitochondria (data not shown). After 24 and 48 hrs of culture with dRib, PBLs of both groups showed an increase in fluorescent green mitochondria, reflecting a fall in ΔΨm. However, after 48 hrs of culture with dRib, PBLs from KRS patients (Fig. 3A and B) showed more evident green fluorescence than PBLs from controls (Fig. 3C), demonstrating a higher degree of mitochondrial membrane depolarization. PBLs from patients (Fig. 3D and E) also showed a higher degree of mitochondrial depolarization than those of controls (Fig. 3F) even when cultured without dRib (Fig. 3D–F).
Affiliation: Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy.