The induced pluripotent stem cells (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) isolated from a male child with Danon disease. Next-generation sequencing (NGS) revealed a stop gained mutation c.467 T > G in LAMP2 gene. PBMCs were reprogrammed by using non-integrating Sendai reprogramming kits. It is a possible cell model to screen alternative medicine treatment of the Danon disease.
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http://dx.doi.org/10.1016/j.scr.2020.101994 | DOI Listing |
Int J Mol Sci
December 2024
Cardiology, Clinical and Molecular Medicine Department, Sapienza University of Rome, 00189 Rome, Italy.
For years, the treatment of many cardiomyopathies has been solely focused on symptom management. However, cardiomyopathies have a genetic substrate, and directing therapy towards the pathophysiology rather than the epiphenomenon of the disease may be a winning strategy. Gene therapy involves the insertion of genes or the modification of existing ones and their regulatory elements through strategies like gene replacement and gene editing.
View Article and Find Full Text PDFEJNMMI Res
December 2024
Turku PET Centre, Turku, Finland.
Background: PET imaging of activated microglia has improved our understanding of the pathology behind disability progression in MS, and pro-inflammatory microglia at 'smoldering' lesion rims have been implicated as drivers of disability progression. The P2X R is upregulated in the cellular membranes of activated microglia. A single-tissue dual-input model was applied to quantify P2X R binding in the normal appearing white matter, perilesional areas and thalamus among progressive MS patients, healthy controls and newly diagnosed relapsing MS patients.
View Article and Find Full Text PDFN Engl J Med
November 2024
From the University of California, San Diego Medical Center, La Jolla (B.G., E.A.); University of Colorado Anschutz Medical Campus, Aurora (M.T.); Boston's Children's Hospital, Harvard Medical School, Boston (S.C.); Rocket Pharmaceuticals, Cranbury, NJ (D.R., P.Y., P.B., G.S., K.P., M.C., S.C.-K., J.D.S.); and Children's Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania (J.W.R.) - both in Philadelphia.
Background: Danon disease is a rare, X-linked, monogenic cardiomyopathy caused by mutations in the lysosomal-associated membrane 2 gene (), which encodes the LAMP2 protein. In male patients, the predominant phenotype is progressive cardiac hypertrophy, cardiac dysfunction, and early death. There are no directed therapies for the disease.
View Article and Find Full Text PDFJACC Case Rep
October 2024
Adult Medical Genetics Program and Division of Cardiology, Anschutz Medical Center, Aurora, Colorado, USA.
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