Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 88, Issue 6, Pages 845-851Publisher
CELL PRESS
DOI: 10.1016/j.ajhg.2011.05.010
Keywords
-
Categories
Funding
- Research on Psychiatric and Neurological Diseases and Mental Health of Health and Labour Sciences research grants
- Research on Intractable Diseases of Health and Labor Sciences research grants
- Ministry of Health, Labour and Welfare [20B-12, 20B-13]
- NCNP [23-4, 23-5]
- KAKENHI [20390250, 22791019]
- Research on Publicly Essential Drugs and Medical Devices of Health and Labor Sciences research grants
- National Institute of Biomedical Innovation (NIBIO)
- Japan Foundation for Neuroscience and Mental Health
- National Institutes of Health [AR-49043]
- Grants-in-Aid for Scientific Research [22791019, 20390250, 21591104] Funding Source: KAKEN
Ask authors/readers for more resources
Congenital muscular dystrophy is a heterogeneous group of inherited muscle diseases characterized clinically by muscle weakness and hypotonia in early infancy. A number of genes harboring causative mutations have been identified, but several cases of congenital muscular dystrophy remain molecularly unresolved. We examined 15 individuals with a congenital muscular dystrophy characterized by early-onset muscle wasting, mental retardation, and peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center on muscle biopsy, and we have identified homozygous or compound heterozygous mutations in the gene encoding choline kinase beta (CHKB). This is the first enzymatic step in a biosynthetic pathway for phosphatidylcholine, the most abundant phospholipid in eukaryotes. In muscle of three affected individuals with nonsense mutations, choline kinase activities were undetectable, and phosphatidylcholine levels were decreased. We identified the human disease caused by disruption of a phospholipid de novo biosynthetic pathway, demonstrating the pivotal role of phosphatidylcholine in muscle and brain.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available