Abstract
The demonstration of the specific genetic defects underlying the diseases from lipid storage, or lipidoses, has been one of the successes recorded in the field of biomedical sciences in the last decades. The gangliosidoses, a highly representative group of lipid storage diseases, constituted an intellectual challenge to pathologists and biochemists, for the heterogeneity of clinical syndromes and complexity of their pathochemical and enzymatic pictures. In some respects the gangliosidoses may be considered authentic reference models of molecular pathology, naturally occurring, since they include syndromes caused by a defect either of a biodegradative enzyme, of lysosomal origin, and of a biosynthetic enzyme. The possibility of providing an explanation at a molecular level for the ethiology and pathogenesis of the storage diseases is not the only achievement of the biochemical investigations of gangliosidoses as well as of other lipidoses. The field of practical possibilities, open by these studies, is very wide. It includes early diagnosis, prenatal diagnosis, detection of heterozygous carriers, and, why not, the strategical attempts toward a therapeutical approach, like enzyme substitution therapy. Some of these possibilities are, or may appear to be, at present, mere and unrealistic speculation; some constitute real and unique tools for medical prevention.
| Original language | English |
|---|---|
| Pages (from-to) | 101-127 |
| Number of pages | 27 |
| Journal | Biochemistry and Experimental Biology |
| Volume | 13 |
| Issue number | 1 |
| Publication status | Published - 1977 |
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ASJC Scopus subject areas
- Medicine(all)
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Molecular pathology of gangliosidoses. / Tettamanti, G.; Berra, B.; Di Palma, S.
In: Biochemistry and Experimental Biology, Vol. 13, No. 1, 1977, p. 101-127.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Molecular pathology of gangliosidoses
AU - Tettamanti, G.
AU - Berra, B.
AU - Di Palma, S.
PY - 1977
Y1 - 1977
N2 - The demonstration of the specific genetic defects underlying the diseases from lipid storage, or lipidoses, has been one of the successes recorded in the field of biomedical sciences in the last decades. The gangliosidoses, a highly representative group of lipid storage diseases, constituted an intellectual challenge to pathologists and biochemists, for the heterogeneity of clinical syndromes and complexity of their pathochemical and enzymatic pictures. In some respects the gangliosidoses may be considered authentic reference models of molecular pathology, naturally occurring, since they include syndromes caused by a defect either of a biodegradative enzyme, of lysosomal origin, and of a biosynthetic enzyme. The possibility of providing an explanation at a molecular level for the ethiology and pathogenesis of the storage diseases is not the only achievement of the biochemical investigations of gangliosidoses as well as of other lipidoses. The field of practical possibilities, open by these studies, is very wide. It includes early diagnosis, prenatal diagnosis, detection of heterozygous carriers, and, why not, the strategical attempts toward a therapeutical approach, like enzyme substitution therapy. Some of these possibilities are, or may appear to be, at present, mere and unrealistic speculation; some constitute real and unique tools for medical prevention.
AB - The demonstration of the specific genetic defects underlying the diseases from lipid storage, or lipidoses, has been one of the successes recorded in the field of biomedical sciences in the last decades. The gangliosidoses, a highly representative group of lipid storage diseases, constituted an intellectual challenge to pathologists and biochemists, for the heterogeneity of clinical syndromes and complexity of their pathochemical and enzymatic pictures. In some respects the gangliosidoses may be considered authentic reference models of molecular pathology, naturally occurring, since they include syndromes caused by a defect either of a biodegradative enzyme, of lysosomal origin, and of a biosynthetic enzyme. The possibility of providing an explanation at a molecular level for the ethiology and pathogenesis of the storage diseases is not the only achievement of the biochemical investigations of gangliosidoses as well as of other lipidoses. The field of practical possibilities, open by these studies, is very wide. It includes early diagnosis, prenatal diagnosis, detection of heterozygous carriers, and, why not, the strategical attempts toward a therapeutical approach, like enzyme substitution therapy. Some of these possibilities are, or may appear to be, at present, mere and unrealistic speculation; some constitute real and unique tools for medical prevention.
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M3 - Article
C2 - 418789
AN - SCOPUS:0017589297
VL - 13
SP - 101
EP - 127
JO - Biochemistry and Experimental Biology
JF - Biochemistry and Experimental Biology
SN - 0366-0060
IS - 1
ER -