Abnormal calcium metabolism in myotonic dystrophy as shown by the Ellsworth-Howard test and its relation to CTG triplet repeat length

Journal of Neurology

Volumn 244, Issue 10, 1997, Pages 613-622

  Kinoshita, M ^a   Komori, T ^b   Ohtake, T ^b   Takahashi, R ^c   Nagasawa, R ^a   Hirose, K ^d  

^a SAITAMA MEDICAL UNIVERSITY   (Japan)

^b TOKYO METROPOLITAN NEUROLOGICAL HOSPITAL   (Japan)

^c TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^d TOKYO METROPOLITAN TAMA MEDICAL CENTER   (Japan)

Author keywords

(CTG)(n) triplet repeat; Abnormal calcium metabolism; Myotonic dystrophy; Pseudohypoparathyroidism type II

Indexed keywords

CALCIUM ION; CYCLIC AMP; CYCLIC AMP DEPENDENT PROTEIN KINASE; DNA FRAGMENT; PARATHYROID HORMONE; PROTEIN KINASE;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CALCIFICATION; CALCIUM BLOOD LEVEL; CALCIUM METABOLISM; CATARACT; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE SEQUENCE; HUMAN; HYPOCALCEMIA; HYPOPARATHYROIDISM; KIDNEY TUBULE CELL; MALE; MYOTONIC DYSTROPHY; NUCLEOTIDE SEQUENCE; OSSIFICATION; PARATHYROID HORMONE BLOOD LEVEL; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; SEQUENCE HOMOLOGY; SIGNAL TRANSDUCTION; SOUTHERN BLOTTING; SYMPTOM; TRINUCLEOTIDE REPEAT; URINE LEVEL;

ADOLESCENT; ADULT; CALCIUM; CYCLIC AMP; FEMALE; HUMANS; MALE; MIDDLE AGED; MYOTONIC DYSTROPHY; PSEUDOHYPOPARATHYROIDISM; TRINUCLEOTIDE REPEATS;

EID: 0030656490     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004150050155     Document Type: Article

References (41)

1. Aurbach GD, Marx SJ, Spiegel AM (1985) Parathyroid hormone, calcitonin, and the calciferols, In: Wilson J, Foster DW (eds) Williams textbook of endocrinology, 7th. edn. Saunders, Philadelphia, pp 1199-1205
2. + channels in myotonic dystrophy. Muscle Nerve 17: 1264-1270
3. Brook JD, Mc Currach ME, Harley HG, et al (1992) Molecular basis of myotonic dystrophy. Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68: 799-808
4. Buxton J, Shelbourne P, Davies J, et al (1992) Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 355: 547-548
5. Ellsworth R, Howard JE (1934) Studies on the physiology of the parathyroid glands. Bull Johns Hopkins Hosp 55: 296-308
6. Doyu M, Sobue G, Mukai E, et al (1992) Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene. Ann Neurol 32: 707-710
7. Duyao M, Ambrose C, Myers R, et al (1993) Trinucleotide repeat length instability and age of onset in Huntington's disease. Nature Genet 4: 387-392
8. - conductance in resealed muscle fibre segments from patients with myotonic dystrophy. J Physiol (Lond) 425: 391-405
9. Fu YH, Friedman DL, Gibbs RA, et al (1993) Decreased expression of myotoninprotein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science 260: 235-238
10. Fukase M, Fujita T, Matsumoto T, et al (1989) Clinical studies using a highly sensitive radioimmunoassay for midregion and carboxy terminus of parathyroid hormone in normal, hypo-, and hypercalcemic states. Endocrinol Jpn 65: 807-827
11. Harper PS (1989) Myotonic dystrophy, the clinical picture. In: Harper PS (ed) Myotonic dystrophy, 2nd edn. Saunders, London, pp 13-36
12. Hruska KA, Kopelman R, Rutherford WE, et al (1975) Metabolism of immunoreactive parathyroid hormone in the dog. J Clin Invest 56: 39-48
13. Hudson AJ, Huff MW, Wright CG, Silver MM, Lo TY, Banerjee D (1987) The role of insulin resistance in the pathogenesis of myotonic muscular dystrophy. Brain 110: 469-488
14. Hull JK, Roses AD (1976) Stoichiometry of sodium and potassium transport in erythrocytes from patients with myotonic muscular dystrophy. J Physiol (Lond) 254: 169-181
15. Jansen G, Mahadevan M, Amemiya C, et al (1992) Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs. Nature Genet 1: 261-266
16. Jansen G, Willems P, Coerwinkel M, et al (1994) Gonosomal mosaicism in myotonic dystrophy patients. Involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm. Am J Hum Genet 54: 575-585
17. n expansions in various tissues from a myotonic dystrophy patient. Muscle Nerve 19: 240-242
18. Koide R, Ikeuchi T, Onodera O et al (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy, Nature Genet 6: 9-13
19. Konagaya Y, Konagaya M, Mano Y, Takayanagi T, Tomita A (1985) Evaluation of renal parathyroid hormone receptor function in myotonic dystrophy. J Neurol Sci 70: 339-346
20. Küchle M, Naumann GO, Volcker HE, Sears ML (1988) Hypotonia bulbi und Gonadotropine bei myotonischer Dystrophy. Klin Monatsbl Augenheilkd 193: 388-392
21. Kuzuya E (1988) Endocrinological abnormalities of myotonic dystrophy. Transactions of the study group on clinical features, genetics and epidemiology in progressive muscular dystrophy. Progressive Muscular Dystrophy Research Committee, The Ministry of Health and Welfare of Japan, pp 167-168
22. Lam L, Hudson AJ, Strickland KP, Tevaarwerk GJ (1983) Insulin binding to myotonic dystrophy fibroblasts. J Neurol Sci 58: 289-295
23. ++)-ATPase of red cells in Duchenne and myotonic dystrophy. Effects of soluble cytoplasmic activator. Neurology 29: 835-841
24. Mahadevan MS, Amemiya C, Jansen G, et al (1993) Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene. Hum Mol Genet 2: 299-304
25. McElduff A, Carter J (1989) Myotonic dystrophy is not associated with abnormalities of calcium homeostasis. Neurology 39: 605-606
26. Mounsey JP, Xu Puting, John III JE, et al (1995) Modulation of skeletal muscle sodium channels by human myotonin protein kinase. J Clin Invest 95: 2379-2384
27. Ogata E, Yamamoto M, Matsumoto T, et al (1984) Standard procedure and the diagnostic criteria for the Ellsworth-Howard Test using Human PTH (1-34). Endocrinol Jpn 60: 971-984
28. Orr HT, Chung M-Y, Banfi S et al (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type I. Nature Genet 4: 221-226
29. Roses AD, Appel SH (1974) Muscle membrane protein kinase in myotonic muscular dystrophy. Nature 250: 245-247
30. Roses AD, Appel SH (1975) Phosphorylation of a component of the human erythrocyte membrane in myotonic muscular dystrophy. J Membrane Biol 20: 51-58
31. Rüdel R, Lehmann-Horn F (1985) Membrane changes in cells from myotonia patients. Physiol Rev 65: 310-356
32. Salvatori S, Biral D, Furlan S, Marin O (1994) Identification and localization of the myotonic dystrophy gene product in skeletal and cardiac muscles. Biochem Biophys Res Commun 203: 1365-1370
33. Stuart CA, Armstrong RM, Provow SA, Plishker GA (1983) Insulin resistance in patients with myotonic dystrophy. Neurology 33: 679-685
34. Timchenko L, Nastainczyk W, Schneider T, Patel B, Hofmann F, Caskey CT (1995) Full-length myotonin protein kinase (72 kDa) displays serine kinase activity. Proc Natl Acad Sci USA 92: 5366-5370
35. Tsilfidis C, MacKenzie AE, Mettler G, Barceló J, Korneluk RG (1992) Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nature Genet 1: 192-195
36. Wöhrle D, Kennerknecht I, Wolf M, Enders H, Schwemmle S, Steinbach P (1995) Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: evidence for a causal involvement of methyl-directed DNA mismatch repair in repeat stability. Hum Mol Genet 4: 1147-1153
37. Wong LJC, Ashizawa T, Monckton DG, Caskey CT, Richards CS (1995) Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am J Hum Genet 56: 114-122
38. Yamamoto M, Furukawa Y, Tamura Y, et al (1982) Diagnostic criteria for pseudohypoparathyroidism and related diseases. Endocrinol Jpn 58: 1080-1094
39. Yoshida H (1988) Abnormal regulation of parathyroid hormone secretion by the serum calcium level in myotonic dystrophy. Endocrinol Jpn 64: 547-553
40. Yoshida H, Kinoshita M, Oshima H, Saito E (1988) Abnormal calcium metabolism in myotonic dystrophy. Endocrinol Jpn 64: 539-546
41. Zatz M, Passos-Bueno MR, Cerqueira A, Marie SK, Vainzof M, Pavanello CM (1995) Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur? Hum Mol Genet 4: 401-406