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RNA sequencing of heart samples of myotonic dystrophic (DM1) patients

ABSTRACT: Analysis of alternative splicing in heart (left ventricles) samples of 3 adult DM1 patients versus 3 adult controls PolyA RNA from left ventricles (heart) of 3 controls and 3 DM1 patients were analysed by massive parrallel sequencing

ORGANISM(S): Homo sapiens

SUBMITTER: nicolas charlet

PROVIDER: E-GEOD-67812 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy.

Freyermuth Fernande F Rau Frédérique F Kokunai Yosuke Y Linke Thomas T Sellier Chantal C Nakamori Masayuki M Kino Yoshihiro Y Arandel Ludovic L Jollet Arnaud A Thibault Christelle C Philipps Muriel M Vicaire Serge S Jost Bernard B Udd Bjarne B Day John W JW Duboc Denis D Wahbi Karim K Matsumura Tsuyoshi T Fujimura Harutoshi H Mochizuki Hideki H Deryckere François F Kimura Takashi T Nukina Nobuyuki N Ishiura Shoichi S Lacroix Vincent V Campan-Fournier Amandine A Navratil Vincent V Chautard Emilie E Auboeuf Didier D Horie Minoru M Imoto Keiji K Lee Kuang-Yung KY Swanson Maurice S MS de Munain Adolfo Lopez AL Inada Shin S Itoh Hideki H Nakazawa Kazuo K Ashihara Takashi T Wang Eric E Zimmer Thomas T Furling Denis D Takahashi Masanori P MP Charlet-Berguerand Nicolas N

Nature communications 20160411

Myotonic dystrophy (DM) is caused by the expression of mutant RNAs containing expanded CUG repeats that sequester muscleblind-like (MBNL) proteins, leading to alternative splicing changes. Cardiac alterations, characterized by conduction delays and arrhythmia, are the second most common cause of death in DM. Using RNA sequencing, here we identify novel splicing alterations in DM heart samples, including a switch from adult exon 6B towards fetal exon 6A in the cardiac sodium channel, SCN5A. We fi ...[more]

PMID: 27063795

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