Abstract
Lysosomal storage disorders (LSD(S)) are genetic disorders due to the deficiencies of lysosomal enzymes and resulting in the intracellular accumulation of toxic substrates in different organs, including the Central Nervous System (CNS). Currently, only symptomatic treatments are available for a number of these disorders. In fact, BMT has been carried out for several lysosomal storage diseases, and while normalized levels of enzymatic activity are typically observed in peripheral blood leukocytes after successful BMT, reports have varied concerning improvements in the neuropsychological status of patients with CNS involvement. Therefore, gene therapy might be a route to be pursued for the treatment of these diseases. This review describes possible approaches for gene therapy of two of the most frequent LSD: Metachromatic Leukodystrophy and Gaucher disease.
| Original language | English |
|---|---|
| Pages (from-to) | 236-241 |
| Number of pages | 6 |
| Journal | Minerva Biotecnologica |
| Volume | 9 |
| Issue number | 4 |
| Publication status | Published - Dec 1997 |
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Keywords
- Gaucher's disease
- Gene therapy
- Metachromatic leukodystrophy
ASJC Scopus subject areas
- Biotechnology
- Bioengineering
- Applied Microbiology and Biotechnology
Cite this
Gene therapy for metachromatic leukodystrophy and Gaucher disease. / Severini, Giovanna Maria.
In: Minerva Biotecnologica, Vol. 9, No. 4, 12.1997, p. 236-241.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Gene therapy for metachromatic leukodystrophy and Gaucher disease
AU - Severini, Giovanna Maria
PY - 1997/12
Y1 - 1997/12
N2 - Lysosomal storage disorders (LSD(S)) are genetic disorders due to the deficiencies of lysosomal enzymes and resulting in the intracellular accumulation of toxic substrates in different organs, including the Central Nervous System (CNS). Currently, only symptomatic treatments are available for a number of these disorders. In fact, BMT has been carried out for several lysosomal storage diseases, and while normalized levels of enzymatic activity are typically observed in peripheral blood leukocytes after successful BMT, reports have varied concerning improvements in the neuropsychological status of patients with CNS involvement. Therefore, gene therapy might be a route to be pursued for the treatment of these diseases. This review describes possible approaches for gene therapy of two of the most frequent LSD: Metachromatic Leukodystrophy and Gaucher disease.
AB - Lysosomal storage disorders (LSD(S)) are genetic disorders due to the deficiencies of lysosomal enzymes and resulting in the intracellular accumulation of toxic substrates in different organs, including the Central Nervous System (CNS). Currently, only symptomatic treatments are available for a number of these disorders. In fact, BMT has been carried out for several lysosomal storage diseases, and while normalized levels of enzymatic activity are typically observed in peripheral blood leukocytes after successful BMT, reports have varied concerning improvements in the neuropsychological status of patients with CNS involvement. Therefore, gene therapy might be a route to be pursued for the treatment of these diseases. This review describes possible approaches for gene therapy of two of the most frequent LSD: Metachromatic Leukodystrophy and Gaucher disease.
KW - Gaucher's disease
KW - Gene therapy
KW - Metachromatic leukodystrophy
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UR - http://www.scopus.com/inward/citedby.url?scp=0030668802&partnerID=8YFLogxK
M3 - Article
VL - 9
SP - 236
EP - 241
JO - Minerva Biotecnologica
JF - Minerva Biotecnologica
SN - 1120-4826
IS - 4
ER -