FIGURE

Figure 5

ID

ZDB-FIG-220324-20

Publication

Corral-Juan et al., 2022 - New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)

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Figure 5

Reduced SAMD9L protein levels and mitochondrial alterations in M-SCA patients’ fibroblasts. (A) Immunoblotting of lysed and subcellular fractioned fibroblasts confirmed SAMD9L mitochondrial localization, and decreased SAMD9L protein levels in the mitochondrial (A) and total (B) cellular extracts from patients’ fibroblasts samples (N = 2) without alteration of SAMD9L cDNA levels compared by qRT-PCR (C) [N = 2 fibroblasts samples for each group of individuals (patients and controls); three technical replicates each for SAMD9L and three technical replicates each for GAPDH housekeeping gene expression]. (D) Increased copy number of the mtDNA D-LOOP mitochondrial genome region in patient’s fibroblasts samples is suggestive of an increased activity of mtDNA replication. (E) A trend of increased ATP was found in mitochondrial fractions of affected fibroblasts [N = 2 fibroblasts samples for each group of individuals (patients and controls); four technical replicates each] compared with age-matched controls [N = 2 fibroblasts samples for each group of individuals (patients and controls); four technical replicates each]. Each point represents relative ATP levels compared with controls after normalizing for protein concentration. Controls values were set to 1 (dotted line).

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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