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M Manfredi

Publications and source records attributed to M Manfredi.

301 records · Page 17Linked to original sources
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[Plasma, intraerythrocytic and spinal fluid amino acid levels in a case of ulcero-mutilating acropathy].

In a patient affected by Thevenard's disease (degenerative disease of the spinal ganglia and posterior roots) we measured levels of intraerythrocytic, plasmatic and cerebrospinal fluid aminoacids. In the plasma we found an increased concentration of taurine and glycine, expression of hypercatabolism, which was confirmed by the presence of a decreased level of the free intraerythrocytic aminoacids. In the cerebrospinal fluid we found increased concentrations of methionine, valine and lysine which indicates the presence of an enzymatic inhibition that involves the systemic transport of aminoacids at the barrier level. The increased levels of glutamic acid and arginine suggests an alteration of the synthesis of alpha-guanino butyric acid. We have also found an increase in the levels of valine, methionine, glycine, tyrosine which suggests the presence of an enzymatic alteration in the collateral reactions that biochemically feed into the Krebs cycle. The authors therefore conclude that the basis of this disease may be found in a metabolic defect biochemical synthesis.

Amino Acids↗
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[Ovarian thyroid].

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Adolescent↗
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Increased membrane protein phosphorylation and anion transport activity in chorea-acanthocytosis.

BACKGROUND AND OBJECTIVE: Chorea-acanthocytosis is a disorder characterized by neuronal degeneration and the presence of acanthocytic erythrocytes on blood smear. The abnormal function and structure of the membrane protein band 3 are considered to be of pathogenetic relevance in determining the erythrocyte defect. METHODS: In a clinically evident case of chorea-acanthocytosis, the following parameters were investigated: membrane cholesterol and fatty acid composition, sulphate influx (as a measure of the anion transport activity), membrane protein phosphorylation, membrane casein and tyrosin-kinase activities; moreover, the promoter and all exons of the EPB3 gene were screened for possible mutations by single strand conformational polymorphism (SSCP) study. RESULTS: The sulphate influx, the Ser/Thr phosphorylation level, and the membrane casein-kinase activity were increased in chorea-acanthocytosis compared with normal controls. In the intact vanadate-treated 32P-labelled erythrocytes, Tyr-phosphorylation of the cytoplasmic domain of band 3, as well as the poly(Glu, Tyr) kinase activity in the membranes, were enhanced in the patient's sample. Apparent molecular weight and concentration of band 3 on SDS/PAGE analysis, membrane fatty acid composition and cholesterol/phospholipid molar ratio were normal and the SSCP study of EPB3 exons did not show any abnormal polymorphisms. INTERPRETATIONS AND CONCLUSIONS: An abnormal degree of phosphorylation of membrane proteins, in particular of band 2 (beta-subunit) and band 3, may contribute in determining both change of cell shape and increased anion transport in chorea-acanthocytosis.

Acanthocytes↗