Erythrocyte deformation in duchenne muscular dystrophy.

Lumb, Elizabeth; Emery, Alan E. H.

doi:10.1136/bmj.3.5981.467-a

Cited by 30 publications

(4 citation statements)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…There was no significant difference between any of the mean values in these various groups. These results clearly indicate that a simple echinocyte count on a 'fresh' blood sample is of no value in carrier detection which confirms Lumb and Emery's (1975) previous findings. Further, there was no significant correlation between the proportion of echinocytes and the serum level of creatine kinase.…”

Section: Resultssupporting

confidence: 89%

See 1 more Smart Citation

Echinocytes in families with Duchenne muscular dystrophy.

Soltan¹

1977

Journal of Medical Genetics

View full text Add to dashboard Cite

show abstract

Section: Resultssupporting

confidence: 89%

“…However, a previous study showed that Short communications there was considerable overlap between the results in controls and carriers and between controls and affected boys (Lumb and Emery, 1975). The present more extensive study was undertaken in order to investigate this problem more fully.…”

Section: Echinocytes In Families Withmentioning

confidence: 85%

Echinocytes in families with Duchenne muscular dystrophy.

Soltan¹

1977

Journal of Medical Genetics

View full text Add to dashboard Cite

show abstract

“…4). Of possible relevance to this latter observation are other reports that describe a variety of abnormalities relating to the membraneassociated protein spectrin, or parameters such as membrane deformability, in the erythrocytes of dystrophic chickens and in humans with Duchenne muscular dystrophy (5)(6)(7)(8)(9)(10)(11)(12). Spectrin, in erythrocytes, is thought to modulate membrane protein movement, membrane stability, and phospholipid asymmetry by forming a network with other proteins, such as ankyrin, band 4.1, and actin, all of which are closely tethered to the undersurface of the lipid bilayer (see reviews in refs.…”

mentioning

confidence: 74%

Increased concentration of spectrin is observed in avian dystrophic muscle.

Repasky¹,

Pollina²,

Menold³

et al. 1986

Proc. Natl. Acad. Sci. U.S.A.

View full text Add to dashboard Cite

A significant increase in the concentration of spectrin has been observed in dystrophic chicken pectoralis major muscle when compared to normal fast-twitch muscle. In normal muscle, a-spectrin-specific immunofluorescence delineates each myofiber with a network pattern of staining at the sarcolemma with little staining within the cytoplasm. In dystrophic fibers, numerous intensely stained areas occur within the cytoplasm and staining at the sarcolemma is increased, thereby obscuring or eliminating the highly regular network arrangement of spectrin usually seen in this region. When immunofluorescence experiments are performed on microsomal vesicles isolated from normal and dystrophic tissues, only a small fraction of normal vesicles are stained, whereas most of the dystrophic vesicles are associated with spectrin. An increase in spectrin concentration is observed using immunoautoradiography of whole muscle and isolated microsomes, thus supporting the immunofluorescent observations described above. The early-age post-hatching when increases in spectrin concentration can be detected and the simplicity of the immunofluorescent technique make this observation useful as a new diagnostic parameter. This observation also shows that the distribution of spectrin and its concentration within nonerythroid cells can be modified by abnormal physiological states; this modification may contribute to subsequent symptoms, such as increased rigidity and abnormal calcium metabolism, that are observed in dystrophy.Shortly after the establishment of a line of chickens with hereditary muscular dystrophy (1, 2), it was observed that the intracellular compartmentalization of Ca2+ in the dystrophic chickens' pectoralis major muscle differed from that observed in normal muscle (3). A decreased affinity for Ca2l has been observed when calcium transport was measured by using erythrocyte membranes of individuals with Duchenne muscular dystrophy (see summary in ref. 4). Of possible relevance to this latter observation are other reports that describe a variety of abnormalities relating to the membraneassociated protein spectrin, or parameters such as membrane deformability, in the erythrocytes of dystrophic chickens and in humans with Duchenne muscular dystrophy (5-12). Spectrin, in erythrocytes, is thought to modulate membrane protein movement, membrane stability, and phospholipid asymmetry by forming a network with other proteins, such as ankyrin, band 4.1, and actin, all of which are closely tethered to the undersurface of the lipid bilayer (see reviews in refs.13-15). Changes in Ca2l levels within erythrocytes can profoundly modify the physical properties of the spectrinmembrane complex (16,17) and since spectrin has been found to be a calmodulin-binding protein (18,19), the implicated relationship between spectrin, calcium metabolism, and membrane properties may be of importance in terms of defining the cellular lesion in dystrophic erythrocytes. However, the applicability of these observations to dystrophic muscle has, until recen...

show abstract

“…Several investigators have reported that a high percentage of red cells from individuals with DMD are deformed with many surface projections and assume the "echinocyte" configuration [Matheson and Howland 1974;Grassi et al, 19781. The possibility of using the echinocyte shape changes as a diagnostic test for carrier detection became doubtful, however, when different authors failed to demonstrate relevant differences between patients and controls [Lumb and Emery, 1975;Soltan, 19771. Another report showed an increased number of stomatocytes rather than echinocytes (Soltan, 1977).…”

Section: Discussionmentioning

confidence: 98%

Echinogenic action of L‐α‐lysophosphatidylcholine in Duchenne muscular dystrophy: A study on carrier detection

et al. 1989

View full text Add to dashboard Cite

The percentage of echinocytes induced after red cell treatment with L-alpha-lysophosphatidylcholine in the blood of 16 patients affected by Duchenne muscular dystropy (DMD) has been evaluated. Moreover, 15 mothers, 10 sisters, and 15 fathers were also included in the study. We found an increased level of echinocytes in dystrophic patients and in known and possible carriers. Correlations were also evaluated between echinocytes and serum enzymes used in DMD diagnosis, showing an increase of echinocytes also in DMD carriers with normal levels of serum creatine kinase, lactate dehydrogenase, and aldolase. Our results suggest that the sensitivity of erythrocytes to L-alpha-lysophosphatidylcholine in DMD could be used as a diagnostic test for carrier detection.

show abstract

Erythrocyte deformation in duchenne muscular dystrophy.

Cited by 30 publications

References 4 publications

Echinocytes in families with Duchenne muscular dystrophy.

Echinocytes in families with Duchenne muscular dystrophy.

Increased concentration of spectrin is observed in avian dystrophic muscle.

Echinogenic action of L‐α‐lysophosphatidylcholine in Duchenne muscular dystrophy: A study on carrier detection

Contact Info

Product

Resources

About