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LDH-Isoenzyme im Muskel bei neuromuskulären Erkrankungen und bei Konduktorinnen der recessiv X-chromosomalen Muskeldystrophie (Duchenne)

Muscle LDH isoenzymes in neuromuscular diseases and in carriers of recessive X-linked muscular dystrophy (Duchenne)

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Abstract

This investigation includes 41 patients with neuromuscular diseases (15 recessive x-linked muscular dystrophy (MD) Duchenne, 1 recessive x-linked MD Becker-Kiener, 1 recessive x-linked scapulo-humero-distal type, 7 recessive autosomal MD, 3 congenital MD, 9 spinal muscular atrophy and 5 rare entities of neuromuscular diseases) and 26 carriers of Duchenne MD. Muscle specimens were taken from the quadriceps muscle. LDH isoenzymes were separated after homogenization by agar gel electrophoresis according to Wieme's method. The isoenzyme fractions were stained by a modified van der Helm technique. Histological examination (light microscopy) was done in all specimens. Most of the patients with MD Duchenne had marked changes in the LDH isoenzyme distribution with predominance of the hybrid fractions LDH-2, LDH-3 and LDH-4. LDH-5 was decreased or absent. There was no relation between the extent of the LDH changes and the clinical stage of disease or histological features. Similar abnormalities were observed in some patients with other types of MD but also in muscular atrophy. Neither the genetically definite carriers nor the possible carriers with elevated serum CPK and histological changes showed abnormalities in the LDH isoenzyme pattern. The problems of interpretation of a fetal-like LDH-pattern in neuromuscular diseases are discussed in respect to the interindividual variability of normal muscle LDH isoenzyme distribution.

Zusammenfassung

Die Untersuchungsserie umfaßt 41 Patienten mit neuromuskulären Erkrankungen (15 recessiv x-chromosomale Muskeldystrophie (MD) Duchenne, 1 recessiv x-chromosomale MD Becker-Kiener, 1 recessiv x-chromosomale scapulo-humero-distale MD, 7 recessiv autosomale MD, 3 kongenitale MD, 9 spinale Muskelatrophien, 5 seltenere neuromuskuläre Erkrankungen) und 26 Konduktorinnen der Muskeldystrophie Duchenne. Muskelbiopsien wurden aus dem M. quadriceps femoris entnommen. Nach Homogenisierung wurden die LDH-Isoenzyme mittels Agargelelektrophorese nach Wieme und Enzymfärbung nach van der Helm identifiziert. Alle Muskelproben wurden lichtmikroskopisch untersucht. Die meisten Patienten mit Duchenne-MD hatten deutliche Veränderungen der LDH-Isoenzyme mit Überwiegen der hybriden Isoenzymfraktionen LDH-2, LDH-3 und LDH-4. Die LDH-5 war vermindert oder fehlte. Es bestand jedoch keine Beziehung zwischen dem Ausmaß der LDH-Isoenzymveränderungen und dem klinischen Stadium oder der Schwere der histologischen Befunde. Ähnliche LDH-Isoenzymmuster wie bei der MD wurden auch bei der spinalen Muskelatrophie und anderen neuromuskulären Erkrankungen gefunden. Weder die genetisch sicheren noch die möglichen Konduktorinnen mit pathologischer Muskelhistologie und erhöhter Serum-CPK-Aktivität zeigten Abweichungen im LDH-Isoenzymmuster. Die Probleme der Interpretation embryonaler LDH-Isoenzymmuster bei neuromuskulären Erkrankungen werden diskutiert.

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Authors and Affiliations

  1. Universitäts-Kinderklinik Bonn, Bonn, Deutschland

    Sabina Kowalewski & Hans-Werner Rotthauwe

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  1. Sabina Kowalewski
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  2. Hans-Werner Rotthauwe
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Technische Assistenz: H. Hammann, U. Beyer, L. Zipf.

Mit Unterstützung durch die Deutsche Forschungsgemeinschaft.

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Kowalewski, S., Rotthauwe, HW. LDH-Isoenzyme im Muskel bei neuromuskulären Erkrankungen und bei Konduktorinnen der recessiv X-chromosomalen Muskeldystrophie (Duchenne). Z. Kinder-Heilk. 113, 55–70 (1972). https://doi.org/10.1007/BF00444890

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