Magnetic resonance spectroscopy of the occipital cortex and the cerebellar vermis distinguishes individual cats affected with alpha-mannosidosis from normal cats

Abstract

A genetic deficiency of lysosomal alpha-mannosidase causes the lysosomal storage disease alphamannosidosis (AMD), in which oligosaccharide accumulation occurs in neurons and glia. The purpose of this study was to evaluate the role of magnetic resonance spectroscopy (MRS) in detecting the oligosaccharide accumulation in AMD. Five cats with AMD and eight age-matched normal cats underwent in vivo MRS studies with a single voxel short echo time (20 ms) STEAM spectroscopy sequence on a 4.7T magnet. Two voxels were studied in each cat, from the cerebellar vermis and the occipital cortex. Metabolites of brain samples from these regions were extracted with perchloric acid and analyzed by high resolution NMR spectroscopy. A significantly elevated unresolved resonance signal between 3.4 and 4. ppm was observed in the cerebellar vermis and occipital cortex of all AMD cats, which was absent in normal cats. This resonance was shown to be from carbohydrate moieties by high resolution NMR of tissue extracts. Resonances from the Glc-NAc group (1.8-2.2 ppm) along with anomeric proton signals (4.6-5.4 ppm) from undigested oligosaccharides were also observed in the extract spectra from AMD cats. This MRS spectral pattern may be a useful biomarker for AMD diagnosis as well as for assessing responses to therapy.

Lactate detection in inducible and orthotopic Her2/neu mammary gland tumours in mouse models

“…Frozen tissues (~ 200–600 mg) were ground at liquid nitrogen temperature with 6% perchloric acid (3.25 ml per 1 g of tissue) using a method described previously . The homogenate was centrifuged at 13 000 rpm for 30 min at 4°C.…”

“…In vivo 1 H magnetic resonance spectroscopy (MRS) enables measurement of concentrations of cellular metabolites . However, in vivo MRS detection of lactate is difficult due to the overlap of the proton resonances emanating from the CH 3 ‐groups of lactate and CH 2 groups of lipids.…”

Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-Mannosidosis

“…Feline models of a-mannosidosis showed abnormal apparent diffusion coefficients, hyperintensities in white matter on T 2 -weighted magnetic resonance images (Vite et al 2001(Vite et al , 2008, and MRS showed a broad signal in the 3.4-4.3 ppm region thought to represent mannose-rich oligosaccharides (Magnitsky et al 2010).…”

CONGENITAL GLYCOGEN STORAGE DISEASE IN A SOUTH AMERICAN COATI (NASUA NASUA)

“…Excess lysosomal material is microscopically exhibited by cellular swelling and can result in cellular dysfunction. 1,5 Lysosomal storage diseases can either be inherited or acquired. An inherited defect or deficiency in specific enzymes is responsible for the congenital form of this disease.…”