The role of Z-disc proteins in myopathy and cardiomyopathy

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The role of Z-disc proteins in myopathy and cardiomyopathy. / Wadmore, Kirsty; Azad, Amar; Gehmlich, Katja.

In: International Journal of Molecular Sciences, Vol. 22, No. 6, 3058, 17.03.2021.

Research output: Contribution to journalReview articlepeer-review

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@article{7883d1b0d4034640a2188a9000046263,
title = "The role of Z-disc proteins in myopathy and cardiomyopathy",
abstract = "The Z-disc acts as a protein-rich structure to tether thin filament in the contractile units, the sarcomeres, of striated muscle cells. Proteins found in the Z-disc are integral for maintaining the architecture of the sarcomere. They also enable it to function as a (bio-mechanical) signalling hub. Numerous proteins interact in the Z-disc to facilitate force transduction and intracellular signalling in both cardiac and skeletal muscle. This review will focus on six key Z-disc proteins: α-actinin 2, filamin C, myopalladin, myotilin, telethonin and Z-disc alternatively spliced PDZ-motif (ZASP), which have all been linked to myopathies and cardiomyopathies. We will summarise pathogenic variants identified in the six genes coding for these proteins and look at their involvement in myopathy and cardiomyopathy. Listing the Minor Allele Frequency (MAF) of these variants in the Genome Aggregation Database (GnomAD) version 3.1 will help to critically re-evaluate pathogenicity based on variant frequency in normal population cohorts.",
keywords = "α-actinin 2, filamin C, myopalladin, myotilin, telethonin, Z-disc alternatively spliced PDZ-motif (ZASP), myopathy, cardiomyopathy, missense variant, truncating variant",
author = "Kirsty Wadmore and Amar Azad and Katja Gehmlich",
year = "2021",
month = mar,
day = "17",
doi = "10.3390/ijms22063058",
language = "English",
volume = "22",
journal = "International Journal of Molecular Sciences",
issn = "1661-6596",
publisher = "MDPI",
number = "6",

}

RIS

TY - JOUR

T1 - The role of Z-disc proteins in myopathy and cardiomyopathy

AU - Wadmore, Kirsty

AU - Azad, Amar

AU - Gehmlich, Katja

PY - 2021/3/17

Y1 - 2021/3/17

N2 - The Z-disc acts as a protein-rich structure to tether thin filament in the contractile units, the sarcomeres, of striated muscle cells. Proteins found in the Z-disc are integral for maintaining the architecture of the sarcomere. They also enable it to function as a (bio-mechanical) signalling hub. Numerous proteins interact in the Z-disc to facilitate force transduction and intracellular signalling in both cardiac and skeletal muscle. This review will focus on six key Z-disc proteins: α-actinin 2, filamin C, myopalladin, myotilin, telethonin and Z-disc alternatively spliced PDZ-motif (ZASP), which have all been linked to myopathies and cardiomyopathies. We will summarise pathogenic variants identified in the six genes coding for these proteins and look at their involvement in myopathy and cardiomyopathy. Listing the Minor Allele Frequency (MAF) of these variants in the Genome Aggregation Database (GnomAD) version 3.1 will help to critically re-evaluate pathogenicity based on variant frequency in normal population cohorts.

AB - The Z-disc acts as a protein-rich structure to tether thin filament in the contractile units, the sarcomeres, of striated muscle cells. Proteins found in the Z-disc are integral for maintaining the architecture of the sarcomere. They also enable it to function as a (bio-mechanical) signalling hub. Numerous proteins interact in the Z-disc to facilitate force transduction and intracellular signalling in both cardiac and skeletal muscle. This review will focus on six key Z-disc proteins: α-actinin 2, filamin C, myopalladin, myotilin, telethonin and Z-disc alternatively spliced PDZ-motif (ZASP), which have all been linked to myopathies and cardiomyopathies. We will summarise pathogenic variants identified in the six genes coding for these proteins and look at their involvement in myopathy and cardiomyopathy. Listing the Minor Allele Frequency (MAF) of these variants in the Genome Aggregation Database (GnomAD) version 3.1 will help to critically re-evaluate pathogenicity based on variant frequency in normal population cohorts.

KW - α-actinin 2

KW - filamin C

KW - myopalladin

KW - myotilin

KW - telethonin

KW - Z-disc alternatively spliced PDZ-motif (ZASP)

KW - myopathy

KW - cardiomyopathy

KW - missense variant

KW - truncating variant

U2 - 10.3390/ijms22063058

DO - 10.3390/ijms22063058

M3 - Review article

VL - 22

JO - International Journal of Molecular Sciences

JF - International Journal of Molecular Sciences

SN - 1661-6596

IS - 6

M1 - 3058

ER -