Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The striking proliferation of connective tissue in Duchenne muscular dystrophy is attributed, besides other components of the extracellular matrix, to an increase of endomysial and perimysial type III and type I collagen. We investigated if muscle fibrosis correlates to an increased serum concentration of procollagen I or III. Therefore, we measured the serum levels of carboxyterminal propeptide of type I procollagen, aminoterminal propeptide of type III procollagen and laminin P1 in 20 boys with progressive muscular dystrophy (16 definite Duchenne muscular dystrophy, 2 suspected of Duchenne muscular dystrophy, 2 Becker muscular dystrophy). In contrast to collagen I and III the expression of laminin in the basement membrane is known to be normal in Duchenne muscular dystrophy. There was no significant alteration of serum concentration of procollagen III N-peptide, procollagen I C-peptide and laminin P1 in boys with Duchenne muscular dystrophy. Measuring these parameters is not useful for investigating the extent of muscle fibrosis or for monitoring the effect of therapeutic trials such as steroid treatment.
 ...
PMID:Serum levels of carboxyterminal propeptide of type I procollagen, aminoterminal propeptide of type III procollagen and laminin P1 in Duchenne muscular dystrophy. 917 23

Skeletal muscles in mdx mice exhibit differential degrees of pathological changes and fibrosis. The purpose of this study was to examine differences in various indices of collagen metabolism in skeletal muscles with widely different functions and activity profiles in mdx mice, and to determine whether pirfenidone would attenuate the development of fibrosis. Mice in the pirfenidone group were orally fed pirfenidone (500 mg/kg) daily for 4 weeks. Marked differences were noted in hydroxyproline concentration between muscles, which could not be explained solely by the level of type I collagen and transforming growth factor-beta1 (TGF-beta1) mRNA. In normal mice, matrix metalloproteinase (MMP)-2 mRNA was significantly higher in the gastrocnemius than in the diaphragm or genioglossus muscles, suggesting that collagen degradation plays an important role in regulating collagen accretion in skeletal muscle. In mdx mice, the levels of both MMP-2 and MMP-9 mRNA were significantly elevated relative to control, although the response was muscle specific. Pirfenidone treatment resulted in a significant reduction in the level of hydroxyproline concentration across all muscles, although the effect was small. Results from this study reveal intrinsic dissimilarities in collagen metabolism between functionally different skeletal muscles. Moreover, the pharmacological use of pirfenidone may be beneficial in preventing fibrosis in muscular dystrophy.
 ...
PMID:A comparison of factors associated with collagen metabolism in different skeletal muscles from dystrophic (mdx) mice: impact of pirfenidone. 1705 74

There is evidence to suggest that weakness of the pelvic and/or uterine musculature may negatively affect the obstetric performance of women who carry the gene for Duchenne muscular dystrophy (DMD). The golden retriever dog is the ideal animal model for preclinical studies of progressive muscular dystrophy, and this model is referred to as "golden retriever muscular dystrophy (GRMD)". This study evaluated and compared the histopathological aspects of the uterine muscle of eleven dogs: health, n=4; carriers of GRMD gene, n=5; and affected females, n=2. The obtained results showed that the uterine muscle of healthy dogs was exclusively composed of type III collagen, while a predominance of type I collagen and small amounts of type III were observed in the uterine muscle of the carriers. The myometrium of the affected bitches showed small quantities of both collagen types. The differences noted in the three evaluated groups suggest that female carrier and those individuals affected by muscular dystrophy had collagen alteration and muscle fiber commitment in the uterine muscle, a deficiency which could directly influence the composition and function of this tissue. In addition, this information is highly relevant to the reproductive management of these animals. This data open important venues for translate reproductive protocols for women, who carry the dystrophin gene.
 ...
PMID:Histological comparison of the smooth uterine muscle of healthy golden retriever bitches, carriers of the progressive muscular dystrophy (GRMD) gene, and GRMD-affected bitches. 2520 Jul 10