Secondary Biochemical and Morphological Consequences in Lysosomal Storage Diseases

被引：12

作者：

Alroy, J. ^{[1
]}

Garganta, C. ^{[2
]}

Wiederschain, G. ^{[3
]}

机构：

[1] Tufts Univ, Sch Med, Tufts Med Ctr, Dept Pathol, Boston, MA 02111 USA

[2] Tufts Med Ctr, Lab Metab, Boston, MA 02111 USA

[3] Boston Coll, Dept Biol, Chestnut Hill, MA 02467 USA

来源：

BIOCHEMISTRY-MOSCOW | 2014年 / 79卷 / 07期

关键词：

lysosomes; lysosomal storage diseases; autophagy; pathogenic cascades; recycling; deficiency of lysosomal enzymes and protein cofactors; metabolic correction; ALPHA-L-FUCOSIDASE; CAPRINE BETA-MANNOSIDOSIS; NIEMANN-PICK-DISEASE; WHITE-MATTER CHANGES; FABRY-DISEASE; MUCOPOLYSACCHARIDOSIS-I; EXTRACELLULAR-MATRIX; GAUCHER-DISEASE; ARYLSULFATASE-A; ENZYME REPLACEMENT;

D O I：

10.1134/S0006297914070049

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

070307 [化学生物学]; 071010 [生物化学与分子生物学];

摘要：

More than 50 hereditary lysosomal storage disorders (LSDs) are currently described. Most of these disorders are due to a deficiency of certain hydrolases/glycosidases and subsequent accumulation of nonhydrolyzable carbohydrate-containing compounds in lysosomes. Such accumulation causing hypertrophy of the lysosomal compartment is a characteristic feature of affected cells in LSDs. The investigation of biochemical and cellular parameters is of particular interest for understanding "life" of lysosomes in the normal state and in LSDs. This review highlights the wide spectrum of biochemical and morphological changes during developing LSDs that are extremely critical for many metabolic processes inside the various cells and tissues of affected persons. The data presented will help establish new complex strategies for metabolic correction of LSDs.

引用

页码：619 / 636

页数：18

共 173 条

[1]

Elevated globotriaosylsphingosine is a hallmark of Fabry disease [J].