RGD Reference Report - Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy. - Rat Genome Database

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Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy.

Authors: Hayashi, YK  Ogawa, M  Tagawa, K  Noguchi, S  Ishihara, T  Nonaka, I  Arahata, K 
Citation: Hayashi YK, etal., Neurology. 2001 Jul 10;57(1):115-21.
RGD ID: 11537476
Pubmed: PMID:11445638   (View Abstract at PubMed)

BACKGROUND: Fukuyama-type congenital muscular dystrophy (FCMD) is an autosomal recessive disorder characterized by severe dystrophic muscle wasting from birth or early infancy with structural brain abnormalities. The gene for FCMD is located on chromosome 9q31, and encodes a novel protein named fukutin. The function of fukutin is not known yet, but is suggested to be an enzyme that modifies the cell-surface glycoprotein or glycolipids. OBJECTIVE: To elucidate the roles of fukutin gene mutation in skeletal and cardiac muscles and brain. METHODS: Immunohistochemical and immunoblot analyses were performed in skeletal and cardiac muscles and brain tissue samples from patients with FCMD and control subjects. RESULTS: The authors found a selective deficiency of highly glycosylated alpha-dystroglycan, but not beta-dystroglycan, on the surface membrane of skeletal and cardiac muscle fibers in patients with FCMD. Immunoblot analyses also showed no immunoreactive band for alpha-dystroglycan, but were positive for beta-dystroglycan in FCMD in skeletal and cardiac muscles. CONCLUSION: The current findings suggest a critical role for fukutin gene mutation in the loss or modification of glycosylation of the extracellular peripheral membrane protein, alpha-dystroglycan, which may cause a crucial disruption of the transmembranous molecular linkage of muscle fibers in patients with FCMD.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Duchenne muscular dystrophy  IEP 11537476protein:decreased expression:skeletal muscleRGD 
Duchenne muscular dystrophy  ISODAG1 (Homo sapiens)11537476; 11537476protein:decreased expression:skeletal muscleRGD 
Fukuyama congenital muscular dystrophy  IEP 11537476protein:decreased expression:brain more ...RGD 
Fukuyama congenital muscular dystrophy  ISODAG1 (Homo sapiens)11537476; 11537476protein:decreased expression:brain more ...RGD 
Fukuyama congenital muscular dystrophy  IEP 11537476 RGD 
Fukuyama congenital muscular dystrophy  ISOFKTN (Homo sapiens)11537476; 11537476 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Dag1  (dystroglycan 1)
Fktn  (fukutin)

Genes (Mus musculus)
Dag1  (dystroglycan 1)
Fktn  (fukutin)

Genes (Homo sapiens)
DAG1  (dystroglycan 1)
FKTN  (fukutin)


Additional Information