Myotonic muscular dystrophy: defective phospholipid metabolism in the erythrocyte plasma membrane.


Journal Article

Myotonic muscular dystrophy (MyD) is a systemic genetic disorder that is thought to result from a generalized cellular membrane defect although the exact nature of this defect is unknown. This study examines two calcium-dependent membrane processes that have been observed in erythrocytes from healthy individuals: calcium-stimulated phosphatidic acid accumulation and calcium-induced potassium leak. We find that erythrocytes from MyD patients, in contrast to controls, have markedly impaired phosphatidic acid accumulations while maintaining normal potassium leaks. The calcium uptakes and ATP contents of MyD erythrocytes are not different from controls. We conclude that phospholipid metabolism is altered in MyD erythrocytes. The specificity of this abnormality and its relationship to altered muscular function are not known.

Full Text

Cited Authors

  • Grey, JE; Gitelman, HJ; Roses, AD

Published Date

  • June 1980

Published In

Volume / Issue

  • 65 / 6

Start / End Page

  • 1478 - 1482

PubMed ID

  • 7410551

Pubmed Central ID

  • 7410551

Electronic International Standard Serial Number (EISSN)

  • 1558-8238

International Standard Serial Number (ISSN)

  • 0021-9738

Digital Object Identifier (DOI)

  • 10.1172/jci109812


  • eng