[Correlation between gene analysis and endocrine abnormalities in the patients with myotonic dystrophy].
The genetic basis of myotonic dystrophy (DM) is an unstable expansion of CTG repeats that encodes a putative protein kinase A (PKA). Expanding CTG repeats length correlates central nervous involvements and cardiac disorders. Moreover, there are studies combining endocrine abnormalities and molecular analysis. In these reports, both the urinary excretion of phosphate in the Ellsworth-Howard test and serum TSH response in the thyrotropin releasing hormone (TRH) tolerance test correlate with size of CTG expansion. The Ellsworth-Howard test and the TRH tolerance test have been postulated to be mediated through the PKA and protein kinase C (PKC), respectively, suggest that the DM gene relates to a PKA or one part of the PKA pathway which influences the PKC pathway.
Hasegawa
T
T
Jikei University School of Medicine.
Kinoshita
M
M
Hirose
K
K
D017868:Cyclic AMP-Dependent Protein Kinases / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007011:Hypoparathyroidism / Q000209:etiology*; D009030:Mosaicism; D009223:Myotonic Dystrophy / Q000150:complications / Q000235:genetics*; D011493:Protein Kinase C / Q000235:genetics / Q000378:metabolism; D011547:Pseudohypoparathyroidism / Q000209:etiology*; D013960:Thyroid Function Tests; D018911:Trinucleotide Repeats
D017868:Cyclic AMP-Dependent Protein Kinases; D011493:Protein Kinase C