PubMed Health⌕ Search

Biomedical subjects

H F Busch

Publications and source records attributed to H F Busch.

64 records · Page 4Linked to original sources
PubMed1980

Early changes of muscle mitochondria in Duchenne dystrophy. Partition and activity of mitochondrial enzymes in fractionated muscle of unaffected boys and adults and patients.

(1) Biopsies from the gastrocnemius muscle of patients with Duchenne dystrophy were partitioned into a myofibrillar plus nuclear fraction, a mitochondrial fraction and a supernatant fraction. The fractions were assayed for mitochondrial enzymes and protein, in order to obtain information about the integrity of mitochondrial structure and function. Muscles from boys and adults without neuromuscular disease were treated likewise. (2) In adults, muscle possesses a significantly higher specific activity (on protein basis) of monoamine oxidase and rotenone-insenitive NADH-cytochrome c reductase (RINCR) than in boys. In childhood, monoamine oxidase activity increases with age. At the age of 5 yr, the specific activity is 50% of the adult value. RINCR activity is constant in childhood. With adolescence it increases from 20 +/- 2 (SEM) to 35 +/- 6 mumoles cytochrome c reduced per min per g protein, and it remains at this level. Palmitoyl-CoA synthetase activity remains constant with age. (3) In Duchenne dystrophy the extractable protein content from muscle is decreased to 75%. The specific activities of the matrix enzymes propionyl-CoA carboxylase and glutamate dehydrogenase are 1.8 and 2.8 times increased, the inner membrane enzyme cytochrome c oxidase is 2.8 times increased, the inner membrane enzyme cytochrome c oxidase is 2.8 times increased. Of the outer membrane enzymes RINCR is 2.0 times increased, while palmitoyl-CoA synthetase is not changed in acitivity. In Duchenne dystrophy monoamine oxidase activity also increases with age. In part this may be due to mitochondria from adipose tissue and macrophages, which are increasingly present in older patients. The specific activities of enzymes with a predominant cytosolic localisation, creatine kinase and adenylate kinase, are increased by a factor of 1.5 and 1.7. (4) The subcellular distribution of the studied enzymes in human skeletal muscle was found to be similar as in animal studies. In mitochondrial fractions from Duchenne patients the recoveries of the following enzymes are decreased: glutamate dehydrogenase (from 25 to 9%), creatine kinase (1.1-0.66%), adenylate kinase (0.44-0.22%), hexokinase (7.1-2.7%), monoamine oxidase (36-21%), RINCR (30-17%), and palmitoyl-CoA synthetase (40-21%). The recoveries of last 3 mitochondrial outer membrane enzymes in the supernatant fractions are correspondingly increased. These results indicate an increased fragility of the mitochondrial membranes in dystrophic muscles. (5) The reported changes are clearly evident in a one-year-old patient, which indicates that the mitochondria are involved early in the disease process.

Adenylate Kinase↗
PubMed1980

Dystrophia myotonica and myotonia congenita concurring in one family. A clinical and genetic study.

In a unique sibship of 5, 2 siblings were found to have dystrophia myotonica and 3 had myotonia congenita. A study was made of the paternal and maternal families and of the offspring of the 5 siblings. Eighty relatives were examined clinically, by slit-lamp and by electromyography. In the relatives of the mother of the sibship only dystrophia myotonica was found and in the relatives of the father only myotonia congenita. In the offspring of the sibship the two diseases were transmitted independently in the successive generations. All patients showed a clinical picture of either one or the other disease and transitional clinical forms were not found. A linkage study was performed in the family with myotonia congenita and in the family in which both diseases occurred. The myotonia congenita gene is probably not linked to the secretor and lutheran genes. The hypothesis that there is no linkage between myotonia congenita and the secretor-lutheran linkage group was found to be 25 times more probable than the alternative hypothesis that myotonia congenita is linked to this group. This family study therefore provides evidence that dystorphia myotonica and myotonia congenita are both clinically as well as genetically distinct.

Adolescent↗
PubMed1979

Infantile and adult-onset acid maltase deficiency occurring in the same family.

A 16-week-old girl died from the infantile form of acid maltase deficiency (Pompe disease, acid alpha-glucosidase deficiency). Her paternal grandfather was well until the age of 53 years, when he started to suffer from the adult-onset form of the same enzyme deficiency. This observation suggests that the infantile and adult-onset forms of acid maltase deficiency are genetically related.

Age Factors↗
PubMed1975

An unusual form of spinal muscular atrophy with mental retardation occurring in an inbred population.

Three sibs are described suffering from hereditary non-progressive spinal muscular atrophy with non-progressive mental retardation. One of them had in addition signs of pyramidal tract involvement. Muscular weakness was more pronounced proximally than distally and the neck muscles were severely involved. Th.ey all had small skulls and several associated congenital malformations were observed including syndactyly of the left hand in 1 patient. The patients belong to a small inbred community in the Netherlands. Erythropoietic protoporphyria was also present in the family but segregated independently. This combination of "congenital" mental retardation with "congenital" non-progressive spinal muscular atrophy is believed to represent a new syndrome, caused by a rare recessive gene.

Adult↗
PubMed1975

Inflammatory myopathy in scapulo-ilio-peroneal atrophy with cardiopathy. A study of two families.

A syndrome of slowly progressive muscle weakness with scapulo-ilio-peroneal distribution and cardiopathy was identified in 26 members of two families. Inheritance was autosomal dominant. Onset of the disease was between 17 and 42 years. Cardiopathy did not antedate skeletal muscle disease and patients had no symptoms of cardiopathy until a late phase of the disease. Initial ECG changes were non-specific, disturbances of conduction and impulse formation developed subsequently. Skeletal muscle biopsies showed neurogenic and myopathic changes with inflammatory cell reaction and perivascular cuffing. The combination of myopathy with neurogenic-like changes is characteristic of many cases of SPA. The inflammatory cell reaction is considered as part of a secondary polymyositis which is at leart partly responsible for muscle pathology.

Adolescent↗
PubMedDate not supplied

Synthesis and in situ localization of lysosomal alpha-glucosidase in muscle of an unusual variant of glycogen storage disease type II.

The lysosomal alpha-glucosidase activity is reduced to 10% to 25% of the average control value in most late-onset cases of glycogen storage disease type II (GSDII). Some adult patients, however, have been identified with an exceptionally low (< 5%) residual enzyme activity. We have investigated one such unusual variant. The rate of alpha-glucosidase synthesis appeared normal but the residual enzyme activity was only approximately 3% in cultured fibroblasts, cultured muscle cells, and muscle tissue of the patient. It appeared that fully matured enzyme molecules were more abundantly present in muscle tissue than in cultured cells. The acid phosphatase activity of affected muscle fibers was enhanced due to an increased number of lysosomes. Lysosomes were particularly abundant in vacuolated areas and they contained, as judged by immunoelectron microscopy, even more alpha-glucosidase molecules than usual. An excessive amount of enzyme molecules were also observed in the endoplasmic reticulum, the site of lysosomal enzyme synthesis, and the cisternae were dilated. These observations suggest that the lysosomal system is stimulated in response to intralysosomal glycogen storage and onset of cellular injury. We hypothesize that the onset of gross pathologic abnormalities is delayed in this particular case of adult GSDII by an increased synthesis of lysosomal alpha-glucosidase, and as a consequence, an increased residual activity in storage-prone muscle fibers.

Acid Phosphatase↗