Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies
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Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies. / Bachmann, Christoph; Franchini, Martina; Van Den Bersselaar, Luuk R.; Kruijt, Nick; Voermans, Nicol C.; Bouman, Karlijn; Kamsteeg, Erik Jan; Knop, Karl Christian; Ruggiero, Lucia; Santoro, Lucio; Nevo, Yoram; Wilmshurst, Jo; Vissing, John; Sinnreich, Michael; Zorzato, Daniele; Muntoni, Francesco; Jungbluth, Heinz; Zorzato, Francesco; Treves, Susan.
In: Brain Communications, Vol. 4, No. 5, fcac224, 2022.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies
AU - Bachmann, Christoph
AU - Franchini, Martina
AU - Van Den Bersselaar, Luuk R.
AU - Kruijt, Nick
AU - Voermans, Nicol C.
AU - Bouman, Karlijn
AU - Kamsteeg, Erik Jan
AU - Knop, Karl Christian
AU - Ruggiero, Lucia
AU - Santoro, Lucio
AU - Nevo, Yoram
AU - Wilmshurst, Jo
AU - Vissing, John
AU - Sinnreich, Michael
AU - Zorzato, Daniele
AU - Muntoni, Francesco
AU - Jungbluth, Heinz
AU - Zorzato, Francesco
AU - Treves, Susan
N1 - Publisher Copyright: © 2022 The Author(s). Published by Oxford University Press on behalf of the Guarantors of Brain.
PY - 2022
Y1 - 2022
N2 - Congenital myopathies are a group of early onset muscle diseases of variable severity often with characteristic muscle biopsy findings and involvement of specific muscle types. The clinical diagnosis of patients typically relies on histopathological findings and is confirmed by genetic analysis. The most commonly mutated genes encode proteins involved in skeletal muscle excitation-contraction coupling, calcium regulation, sarcomeric proteins and thin-thick filament interaction. However, mutations in genes encoding proteins involved in other physiological functions (for example mutations in SELENON and MTM1, which encode for ubiquitously expressed proteins of low tissue specificity) have also been identified. This intriguing observation indicates that the presence of a genetic mutation impacts the expression of other genes whose product is important for skeletal muscle function. The aim of the present investigation was to verify if there are common changes in transcript and microRNA expression in muscles from patients with genetically heterogeneous congenital myopathies, focusing on genes encoding proteins involved in excitation-contraction coupling and calcium homeostasis, sarcomeric proteins, transcription factors and epigenetic enzymes. Our results identify RYR1, ATPB2B and miRNA-22 as common transcripts whose expression is decreased in muscles from congenital myopathy patients. The resulting protein deficiency may contribute to the muscle weakness observed in these patients. This study also provides information regarding potential biomarkers for monitoring disease progression and response to pharmacological treatments in patients with congenital myopathies.
AB - Congenital myopathies are a group of early onset muscle diseases of variable severity often with characteristic muscle biopsy findings and involvement of specific muscle types. The clinical diagnosis of patients typically relies on histopathological findings and is confirmed by genetic analysis. The most commonly mutated genes encode proteins involved in skeletal muscle excitation-contraction coupling, calcium regulation, sarcomeric proteins and thin-thick filament interaction. However, mutations in genes encoding proteins involved in other physiological functions (for example mutations in SELENON and MTM1, which encode for ubiquitously expressed proteins of low tissue specificity) have also been identified. This intriguing observation indicates that the presence of a genetic mutation impacts the expression of other genes whose product is important for skeletal muscle function. The aim of the present investigation was to verify if there are common changes in transcript and microRNA expression in muscles from patients with genetically heterogeneous congenital myopathies, focusing on genes encoding proteins involved in excitation-contraction coupling and calcium homeostasis, sarcomeric proteins, transcription factors and epigenetic enzymes. Our results identify RYR1, ATPB2B and miRNA-22 as common transcripts whose expression is decreased in muscles from congenital myopathy patients. The resulting protein deficiency may contribute to the muscle weakness observed in these patients. This study also provides information regarding potential biomarkers for monitoring disease progression and response to pharmacological treatments in patients with congenital myopathies.
KW - congenital myopathies
KW - expression
KW - muscle biopsies
KW - mutations
KW - transcripts miRNAs
U2 - 10.1093/braincomms/fcac224
DO - 10.1093/braincomms/fcac224
M3 - Journal article
C2 - 36196089
AN - SCOPUS:85144576512
VL - 4
JO - Brain Communications
JF - Brain Communications
SN - 2632-1297
IS - 5
M1 - fcac224
ER -
ID: 339723758