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Table 1 Overview of human and mouse muscle samples studied and intracellular localization of major chaperones

From: Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function

 

Intracellular localization of

Gene

Disease/Mutation

Year of birth/Gender

αB-Crystallin

HSP27

HSP90

Human muscles

(3×) Healthy CTRL

1953/72/78/M

Z-disc

Z-disc/Cytosol

Cytosol

CAPN3

LGMD2Aa/Calpainopathy

 

I-band

I-band

I-band

 

1) p.Thr184Argfs & Trp130 > Cys

1967/M

   
 

2) p.Thr184Argfs & p.Arg315Arg

1957/M

   

3) p.Thr184Argfs & p.Gly329Arg

1968/F

   

DMD

Duchenne muscular dystrophy

 

I-band

I-band

I-band

1) Del. exon 2–18

1998/M

   

2) Del. exon 3–11

2014/M

   

FLNC

Filaminopathy

(2×) p.Val930_Thr/933del

1960/M

1960/F

I-band

I-band

I-band

TTN

Titinopathy/HMERFb

(2×) p.Cys30071Arg

Unknown/Unknown

I-band

I-band

I-band

MYOT

Myotilinopathy

 

I-band

I-band

I-band

1) p.Ser60Phe

1928/M

   

2) p.Lys36Glu

1940/F

   

VCP

IBMPFDc

(Valosin-containing protein)

 

I-band

I-band

I-band

1) p.Arg93Cys

1971/M

   

2) p.Arg155His

Unknown/M

   

DES

Desminopathy

p.Arg350Pro

1976/M

Cytosol

Cytosol

I-band/ Cytosol

(3×) Sporadic inclusion body myositis (sIBM)

1955/1998/2014/M

Z-disc

Z-disc/Cytosol

Cytosol

Mouse muscles

Litter-matched WT CONTROLS

2016/M

Z-disc

Z-disc/Cytosol

Cytosol

FLNC

MFM filaminopathy

p.W2711X

2016/M

I-band

I-band

I-band

DMD

mdx C57BL/10ScSn

2016/M

I-band

I-band

I-band

  1. aLGMD2A, Limb girdle muscular dystrophy type 2A
  2. bHMERF, Hereditary myopathy with early respiratory failure
  3. cIBMPFD, Inclusion body myopathy with Paget disease and frontotemporal dementia