Faulkner et al., "Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin," Nature Genetics, vol.
SREBF1-transcription factor that regulates gene expression levels of stearoyl-CoA desaturase (SCD) leading predominantly to monounsaturated fatty acid (MUFA) oleic acid C18:1n = 9 in intramuscular fat (IMF); TCAP-titin-cap or Telethonin, interacts with titin-cap structure and regulates, by inhibition, myostatin hormone secretion; GH1-growth hormone; UTS2R-urotensin 2 receptor; FASN-fatty acid synthetase.
Functional studies revealed that all three members of the Myoz family are able to influence the formation and maintenance of the Z-disc and interact with multiple Z-disc proteins including a-actinin, [beta]-filamin, Telethonin
, and Calcineurin .
(2) Second: Should we incorporate telethonin immunohistochemistry or immunofluorescence to the investigation panel?
Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G.
Calpain-3 is probably located in the main part of the muscle cell, and myotilin and telethonin
are located in the part of the muscle cell that allows it to contract and relax.
The Z-disk proteins include [alpha]-actinin 2, cardiac ankyrin repeat protein, muscle LIM protein, LIM binding domain 3, myozenin 2, telethonin
, and vinculin/metavinculin.
Calsarcin-1, -2 and -3 all interact with calcineurin and the Z-disc proteins [alpha]-actinin, [gamma]-filamin, myotilin, telethonin
and cipher (Faulkner et al., 2000).