A patient with history of progressive motor neuron disease has been previously found to have altered levels of activity and isoenzyme expression of the lysosomal enzyme β-Nacetylhexosarrunidase (Hex) in serum and leukocytes. It has al so been demonstrated that carriers for the GM2 gangliosidosis type 0 (Sandhoff disease) may display motor neuron disease like phenotype. In this report we investigated the lysosomal glycohydrolases Hex and a-D-mannosidase (a-man) activities and isoenzyme expression in lymphocytes and monocytes from peripheral blood of a patient affected by the sporadic type of amyotrophic lateral sclerosis (ALS). Enzyme activities were also evaluated in senim nnd in plasma prepared from venous blood and in ceiebro spinal fluid (CSF) from the same patients. Total Hex and a-mann levels in all samples from patients were reduced respect to controls, with the exception of plasma, in which levels of both enzymes were comparables with those of controls. Further studies showed altered thermal stability properties of the enzymes from patient. Separation of Hex and a-mann isoenzymes by ionic exchange chromatography confirmed the anomalous expression of the enzymes in the ALS patient. On the basis of our results, it is therefore possible that impaired substrates metabolism may be the underlying biochemical feature in such case of motor neurone disease.
|Number of pages||1|
|Journal||Italian Journal of Neurological Sciences|
|Publication status||Published - 1997|
ASJC Scopus subject areas
- Clinical Neurology