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Biomedical subjects

C Angelini

Publications and source records attributed to C Angelini.

At least 199 records · Page 11Linked to original sources
PubMed1987

Friedreich's disease: V. Variant form with vitamin E deficiency and normal fat absorption.

A 30-year-old woman was thought to have Friedreich's disease because of progressive ataxia, dysarthria, and titubation from age 3 years. Her diet was normal, and there were neither symptoms nor laboratory evidence of liver disease or fat malabsorption. Serum vitamin E content and the ratio of serum vitamin E to total serum lipid were very low, but serum vitamin A, cholylglycine, and lipid levels were normal, as was an oral vitamin E tolerance test. Muscle biopsy showed the lysosomal inclusions of vitamin E deficiency. Mitochondria had normal oxidative phosphorylation using polarographic assays. The cause of her vitamin E deficiency was unknown.

Adult↗
PubMed1987

Exercise-induced recurrent myoglobinuria: defective activity of inner carnitine palmitoyltransferase in muscle mitochondria of two patients.

In carnitine palmitoyltransferase (CPT) deficiency, it is not known whether the outer (CPT-I) and the inner (CPT-II) mitochondrial activities are equally altered. By two different assays, we found that CPT activity in fresh intact mitochondria of two patients was normal or increased, indicating an active outer CPT. In controls and in one of the two patients, the isotope-exchange assay was also evaluated after disruption of mitochondria by sonication: in controls the activity almost doubled because of the contribution of inner CPT to the assay, but in the patients it did not increase, indicating absence of the CPT-II activity. After further disruption of mitochondria by freezing and all-glass homogenization, CPT activity in patients decreased to 36% and 10% of control. These data suggest CPT deficiency was limited to the inner mitochondrial activity. The alteration could be explained by mutation of the membrane factor that determines in situ differences between CPT-I and II.

Acyltransferases↗
PubMed1987

Myotonic dystrophy and chromosome translocation segregating in the same family.

We report on a family segregating the myotonic dystrophy (DM) gene and a t(5;8) reciprocal translocation. The DM presented the characteristics typically seen in this disease, i.e. full penetrance, broad expressivity, apparent anticipation in successive generations, presence of a congenital form transmitted by a carrier mother. The family was uninformative for linkage studies with the Lutheran and Secretor loci. The concordance between DM and chromosome translocation in 8 out of 9 individuals at risk was apparently due to chance.

Adult↗
PubMed1986

Toxic myopathy induced by industrial minerals oils: clinical and histopathological features.

We report a case of subacute myopathy in a 47 years old man engaged on boiler maintenance at an oil-fired thermoelectric power station. The occupational history highlighted heavy exposure to inhalation of ash derived from mineral oil combustion and containing several elements, metals and metalloids, including vanadium and nickel. The presenting symptoms, clinical course and muscle histopathology suggest that exposure to toxic agents probably played an important part in the causation of the myopathy.

Humans↗
PubMed1986

Malonyl-CoA abnormal inhibition of residual enzyme activity in carnitine palmitoyltransferase deficiency.

The residual enzyme activity in tissues of a 6-year-old boy with myoglobinuria and carnitine palmitoyltransferase (CPT) deficiency was studied with malonyl-CoA, a specific inhibitor of CPT-I in rat tissues. In this patient the enzyme deficiency was limited to the CPT fraction insensitive to malonyl-CoA, since the residual activity was an increased amount of CPT sensitive to the inhibitor. CPT sensitivity to malonyl-CoA was also assayed in human liver mitochondria, and inhibition was similar to that found in rat liver. Moreover, comparative data on human liver mitochondria and biopsy specimens showed that, after freeze-thawing and homogenization, CPT sensitivity to malonyl-CoA was decreased in both these preparations, indicating that studies of CPT inhibition by malonyl-CoA in homogenates of frozen tissues may be equated to those in homogenates of frozen mitochondria.

Acyl Coenzyme A↗
PubMed1986

Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental impairment.

The son of third cousins was normal until age 2 when he had difficulty walking. At age 8 there was limb weakness, ataxia, loss of tendon reflexes, dislalia, and he was mildly retarded. During fasting, urinary organic acid excretion was abnormally high. Cytochrome c oxidase activity in muscle was 7% of the normal mean. The enzyme in platelets was 16% of controls with a decreased cytochrome aa3 peak. These data suggest an autosomal recessive transmission of this variant of cytochrome c oxidase deficiency.

Ataxia↗
PubMed1985

Familial neuromuscular disease with tubular aggregates.

We have studied four members of a family in which five individuals of both sexes in three generations have mild weakness and muscle aching. Serum creatine kinase (CK) and/or aldolase were mildly to moderately elevated. Tubular aggregates were present in all patients in all fiber types. Type 1 fiber predominance and type 2 hypotrophy or atrophy was noted in three biopsies. Fiber splitting was prominent in two cases. Electron microscopic studies confirm that the tubular aggregates originate from muscle sarcoplasmic reticulum (SR). The presence of T tubules making contacts with some tubules inside the collection of tubular aggregates is suggestive of their derivation from terminal cisternae.

Adolescent↗
PubMed1985

Tubular aggregates: sarcoplasmic reticulum origin, calcium storage ability, and functional implications.

Muscle biopsy specimens from three patients with an autosomal dominant myopathy and tubular aggregates in both type 1 and type 2 fibers were investigated for immunofluorescent staining with antibodies to sarcoplasmic reticulum (SR) Ca-pump protein and calsequestrin and for Ca2+ loading ability. The results show that type 1 and type 2 fibers are differentially reactive to anti-Ca-pump protein IgG and similarly reactive with affinity-purified antibody to calsequestrin, which is in agreement with earlier observations in rat skeletal muscle. Tubular aggregates, which are shown to be highly reactive with either kind of antibody, appear to be sites of calcium accumulation for oxalate-facilitated adenosine triphosphate (ATP) dependent Ca uptake by chemically skinned fibers and thereby increase markedly the Ca loading capacity of the affected fibers.

Blotting, Western↗
PubMed1985

Sensory, motor, and autonomic neuropathy in patients with multiple symmetric lipomatosis.

Clinical evaluation of 33 male patients affected by multiple symmetric lipomatosis has revealed a previously unreported high prevalence of somatic and autonomic neuropathies. In 84% of the patients, clinical examination revealed signs or symptoms of neural disturbances, ranging from a vibratory sensory loss to severely incapacitating trophic ulcers or Charcot's arthropathy. Electrodiagnostic investigations demonstrated a significant reduction of motor and sensory conduction velocity in the peroneal and sural nerves. Morphometric studies of nerve and muscle biopsies from five patients with multiple symmetric lipomatosis revealed a significant reduction in myelinated fiber density (4435 +/- 593 fibers/mm2 in MSL vs 7660 +/- 800 in controls; p less than 0.05), a selective reduction in the large fibers of 7 to 10 micron in diameter, and signs of chronic denervation-reinnervation processes. Bedside tests for autonomic neuropathy were abnormal in 15 of 20 patients studied. Metabolic studies in these patients confirmed a significant increase in plasma high-density lipoprotein fractions consistent with the diagnosis of hyperalphalipoproteinemia, and a significant reduction in plasma low-density lipoprotein fractions (hypobetalipoproteinemia) associated with a marked enhancement of lipoprotein lipase activity in adipose tissue. Thus, a metabolic factor has to be considered in the pathogenesis of MSL neuropathy.

Adult↗
PubMed1985

Carnitine deficiency, organic acidemias, and Reye's syndrome.

Relative carnitine deficiency is important in the pathophysiology of several disorders, including Reye's syndrome and organic acidemias. In acute clinical crises, carnitine serves as a "buffer," trapping toxic acyl compounds. Mitochondrial failure develops in carnitine deficiency when there is insufficient tissue carnitine available to buffer toxic acyl-CoA metabolites. Toxic levels of acyl-CoA impair the citrate cycle, gluconeogenesis, the urea cycle, and fatty-acid oxidation. Carnitine replacement therapy is safe and induces excretion of toxic acyl groups in the urine.

Acids↗
PubMed1984

Carnitine and acyltransferase in experimental neurogenic atrophies: changes with treatment.

Carnitine level and carnitine palmityl transferase (CPT) activity were investigated in muscles of patients with infantile and juvenile spinal muscular atrophy and polyneuropathies. A significant decrease of both carnitine and CPT was found in the infantile spinal muscular atrophy, but not in the other neurogenic muscle atrophies. These findings were compared with the experimental effect of denervation and reinnervation upon the lipid metabolism in soleus and extensor digitorum longus (EDL) of adult and newborn rats. Twenty-one days after denervation free and total carnitine decreased significantly in both EDL (P less than 0.001) and soleus (P less than 0.05) of adult animals. CPT activity was significantly decreased in the soleus 50 days after denervation (P less than 0.005). Long-term reinnervation restored the level of carnitine fraction and CPT activity. L-carnitine treatment for 21 days restored the level of free carnitine to normal in the soleus of denervated adult animals. Denervation in newborn rats influenced carnitine concentration in soleus and EDL to a lesser extent; the treatment with L-carnitine raised short-chain acylcarnitines in denervated muscles, while reinnervation restored carnitine level within 50 days.

Acyltransferases↗
PubMed1984

Myoglobinuria and carnitine palmityltransferase (CPT) deficiency: studies with malonyl-CoA suggest absence of only CPT-II.

A 23-year-old man suffered since adolescence from recurrent myoglobinuria. His ketone body production during fasting was normal. Muscle, liver, and platelet carnitine palmityltransferase (CPT) ranged from 4 to 27% of control by isotope exchange and backward assays. Forward CPT activity was 34% of control in liver, whereas in muscle and platelets it was either normal or absent depending on the experimental conditions. CPT residual activity was studied with malonyl-CoA, a physiologic inhibitor of CPT-I (sensitive fraction) in rat liver mitochondria. In our patient, the insensitive fraction was missing in muscle, liver, and platelets, while the sensitive fraction was increased considerably in the same tissues. Similar results were obtained in platelets of two other patients with CPT deficiency. Increased malonyl-CoA sensitive CPT and decreased malonyl-CoA insensitive CPT suggest absence of only the CPT-II isoenzyme in these patients.

Acyl Coenzyme A↗