DP71 and SERCA2 alteration in human neurons of a Duchenne muscular dystrophy patient View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-01-15

AUTHORS

Simona Ruggieri, Luigi Viggiano, Tiziana Annese, Carmela Rubolino, Andrea Gerbino, Roberta De Zio, Patrizia Corsi, Roberto Tamma, Domenico Ribatti, Mariella Errede, Francesca Operto, Lucia Margari, Nicoletta Resta, Silvia Di Tommaso, Jessica Rosati, Maria Trojano, Beatrice Nico

ABSTRACT

Cognitive deficit has been identified in one third of patients affected by Duchenne Muscular Dystrophy, primarily attributed to loss of the short Dp71 dystrophin, the major brain dystrophin isoform. In this study, we investigated for the first time the Dp71 and Dp71-associated proteins cellular localization and expression in human neurons obtained by differentiation from induced pluripotent stem cell line of a patient affected by cognitive impairment. We found structural and molecular alterations in both pluripotent stem cell and derived neurons, reduced Dp71 expression, and a Ca2+ cytoplasmic overload in neurons coupled with increased expression of the SERCA2 pump in the dystrophic neurons. These results suggest that the reduction of Dp71 protein in the Duchenne muscular dystrophy neurons leads to alterations in SERCA2 and to elevated cytosolic Ca2+ concentration with consequent potential disruption of the dystrophin proteins and Dp71-associated proteins. More... »

PAGES

29

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s13287-018-1125-5

DOI

http://dx.doi.org/10.1186/s13287-018-1125-5

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1111441544

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30646960


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21 schema:description Cognitive deficit has been identified in one third of patients affected by Duchenne Muscular Dystrophy, primarily attributed to loss of the short Dp71 dystrophin, the major brain dystrophin isoform. In this study, we investigated for the first time the Dp71 and Dp71-associated proteins cellular localization and expression in human neurons obtained by differentiation from induced pluripotent stem cell line of a patient affected by cognitive impairment. We found structural and molecular alterations in both pluripotent stem cell and derived neurons, reduced Dp71 expression, and a Ca<sup>2+</sup> cytoplasmic overload in neurons coupled with increased expression of the SERCA2 pump in the dystrophic neurons. These results suggest that the reduction of Dp71 protein in the Duchenne muscular dystrophy neurons leads to alterations in SERCA2 and to elevated cytosolic Ca<sup>2+</sup> concentration with consequent potential disruption of the dystrophin proteins and Dp71-associated proteins.
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29 Dp71
30 Dp71 dystrophin
31 Dp71 expression
32 Dp71 protein
33 Dp71-associated proteins
34 Duchenne muscular dystrophy
35 Duchenne muscular dystrophy neurons
36 Duchenne muscular dystrophy patients
37 SERCA2
38 SERCA2 alteration
39 SERCA2 pump
40 alterations
41 brain
42 cell lines
43 cells
44 cellular localization
45 cognitive deficits
46 cognitive impairment
47 concentration
48 consequent potential disruption
49 cytoplasmic overload
50 cytosolic Ca
51 deficits
52 differentiation
53 disruption
54 dystrophic neurons
55 dystrophin
56 dystrophin protein
57 dystrophy
58 dystrophy neurons
59 dystrophy patients
60 elevated cytosolic Ca
61 expression
62 first time
63 human neurons
64 impairment
65 induced pluripotent stem cell line
66 isoforms
67 lines
68 localization
69 loss
70 major brain
71 molecular alterations
72 muscular dystrophy
73 muscular dystrophy neurons
74 muscular dystrophy patients
75 neurons
76 overload
77 patients
78 pluripotent stem cell lines
79 pluripotent stem cells
80 potential disruption
81 protein
82 pump
83 reduced Dp71 expression
84 reduction
85 results
86 short Dp71 dystrophin
87 stem cell lines
88 stem cells
89 study
90 third
91 third of patients
92 time
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