Echinocytes in families with Duchenne muscular dystrophy.

Soltan, Hubert C.

doi:10.1136/jmg.14.4.276

Cited by 8 publications

(1 citation statement)

References 5 publications

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“…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). Despite the confusion, interest has been maintained in the possible use of red cell morphology for diagnostic purposes in DMD.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 1989

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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.

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Section: Discussionmentioning

confidence: 99%

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

et al. 1989

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Biochemistry of muscle membranes in Duchenne muscular dystrophy

Rowland¹

1980

Muscle and Nerve

261

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In Duchenne muscular dystrophy, as in other genetic diseases, there must be a biochemical abnormality. This fundamental genetic fault has not been identified, but several indirect lines of evidence suggest that the surface membranes of skeletal muscle are affected. The biochemical evidence implies abnormal egress of soluble enzymes and other proteins from muscle, abnormal permeability, and altered properties of membrane-bound enzymes. As a result of the presumed genetic abnormality, functional properties are altered, and impaired regulation of intracellular calcium content could be responsible for the hallmarks of the disease--progressive weakness and degeneration of muscle. The evidence is by no means conclusive, however, and some of it is contradictory. Technical advances must be made before isolated membranes can be characterized biochemically. Other theories are also being evaluated.

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Duchenne muscular dystrophy: Pathogenetic aspects and genetic prevention

1984

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Duchenne muscular dystrophy (DMD) is the most common sex linked lethal disease in man (one case in about 4000 male live births). The patients are wheelchair bound around the age of 8-10 years and usually die before the age of 20 years. The mutation rate, estimated by different methods and from different population studies, is in the order of 7 X 10(-5), which is higher than for any other X-linked genetic disease. Moreover, unlike other X linked diseases such as hemophilia A or Lesh-Nyhan's disease, there seems to be no sex difference for the mutation rates in DMD. Several observations of DMD in girls bearing X-autosomal translocations and linkage studies on two X chromosomal DNA restriction fragment length polymorphisms indicate that the DMD locus is situated on the short arm of the X chromosome, between Xp11 and Xp22. It may be of considerable length, and perhaps consisting of actively coding and non-active intervening DNA sequences. Thus unequal crossing over during meiosis in females could theoretically account for a considerable proportion of new mutations. However, there is no structurally or functionally abnormal protein known that might represent the primary gene product, nor has any pathogenetic mechanism leading to the observed biochemical and histological alterations been elucidated. Among the numerous pathogenetic concepts the hypothesis of a structural or/and functional defect of the muscular plasma membrane is still the most attractive. It would explain both the excess of muscular constituents found in serum of patients and carriers, such as creatine kinase (CK), as well as the excessive calcium uptake by dystrophic muscle fibres, which, prior to necrosis, could lead to hypercontraction, rupture of myofilaments in adjacent sarcomeres and by excessive Ca uptake to mitochondrial damage causing crucial energy loss. The results of studies on structural and functional membrane abnormalities in cells other than muscle tissue, e.g., erythrocytes, lymphocytes and cultured fibroblasts, indicate that the DMD mutation is probably demonstrable in these tissues. However, most of the findings are still difficult to reproduce or even controversial. DMD is an incurable disease; therefore most effort, in research as well as in practical medicine, is concentrated upon its prevention.(ABSTRACT TRUNCATED AT 400 WORDS)

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Echinocytes in families with Duchenne muscular dystrophy.

Cited by 8 publications

References 5 publications

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

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

Biochemistry of muscle membranes in Duchenne muscular dystrophy

Duchenne muscular dystrophy: Pathogenetic aspects and genetic prevention

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