Molecular pathology of gangliosidoses

G. Tettamanti, B. Berra, S. Di Palma

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)101-127
Number of pages27
JournalBiochemistry and Experimental Biology
Volume13
Issue number1
Publication statusPublished - 1977

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Gangliosidoses
Molecular Pathology
Lipidoses
Enzyme Therapy
Lipids
Enzymes
Prenatal Diagnosis
Early Diagnosis

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Tettamanti, G., Berra, B., & Di Palma, S. (1977). Molecular pathology of gangliosidoses. Biochemistry and Experimental Biology, 13(1), 101-127.

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 journalArticle

Tettamanti, G, Berra, B & Di Palma, S 1977, 'Molecular pathology of gangliosidoses', Biochemistry and Experimental Biology, vol. 13, no. 1, pp. 101-127.
Tettamanti G, Berra B, Di Palma S. Molecular pathology of gangliosidoses. Biochemistry and Experimental Biology. 1977;13(1):101-127.
Tettamanti, G. ; Berra, B. ; Di Palma, S. / Molecular pathology of gangliosidoses. In: Biochemistry and Experimental Biology. 1977 ; Vol. 13, No. 1. pp. 101-127.
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