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BIOCHEMICAL AND MORPHOLOGICAL EXPRESSION OF EARLY PRENATAL CAPRINE β‐MANNOSIDOSIS
Author(s) -
LOVELL K. L.,
MATSUURA F.,
PATTERSON J.,
BAEVERFJORD G.,
AMES N. K.,
JONES M. Z.
Publication year - 1997
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199706)17:6<551::aid-pd109>3.0.co;2-1
Subject(s) - fetus , biology , gestation , mucolipidosis , obligate , transplantation , prenatal diagnosis , andrology , physiology , immunology , pregnancy , medicine , enzyme , biochemistry , genetics , ecology
Lysosomal storage diseases associated with early‐onset pathological changes may require prenatal therapy to avert the profound effects of the metabolic error on organs, especially the central nervous system. The present investigation determined the extent of expression of β‐mannosidase deficiency in the caprine fetus at 62 days of gestation, near the end of the period of immunotolerance when donor cells can engraft in various organs without immune rejection and supply missing enzyme. Three pairs of obligate carrier goats from the β‐mannosidosis colony were mated. Out of six fetuses delivered at 62 days of gestation, one (V385) was identified by measurement of β‐mannosidase activity as the only fetus affected with β‐mannosidosis. Thin‐layer chromatography and quantitation of oligosaccharides revealed the presence of tri‐ and disaccharides, typical of β‐mannosidosis, only in V385. Morphological analysis revealed cytoplasmic vacuolation typical of β‐mannosidosis in V385; in thyroid, spinal cord, and kidney, the pattern of vacuolation was similar to, but less severe than, that observed previously in newborn affected goats. On the basis of these results, it will be possible to determine the effects of prenatal cell transplantation therapeutic strategies performed during the period of immunotolerance by monitoring phenotypic characteristics after treatment. © 1997 John Wiley & Sons, Ltd.