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Fig. 5 | Acta Neuropathologica Communications

Fig. 5

From: Cellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene

Fig. 5

Increased neuromelanin production in POLGQ811R variant MDNS may be linked to proteome alterations. a and b Bright field images showing the formation of NM-like pigmented granules in POLG1 variant and healthy control MDNS. Quantification of the pigmentation of the MDNS in a.u. Results are presented as ± SEM; n = 80 MDNS counted; **** represents P < 0.0001; unpaired t-test. c Abundance levels for proteins linked to neuromelanin production in POLG1 variant and healthy control MDNS identified by LC MS/MS quantitative proteomics. d and e Western blot showing a significant decrease in levels of MAO-B in the POLG1 variant compared to healthy control MDNS. Quantification of MAO-B levels are shown normalized to b-ACTIN. Results are presented as ± SEM; n = 4 independent experiments; ** indicates P < 0.01; unpaired t-test

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Acta Neuropathologica Communications

ISSN: 2051-5960

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