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2016 ; 4
(4
): ä Nephropedia Template TP
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Mitochondrial Dysfunction in Lysosomal Storage Disorders
#MMPMID28933411
de la Mata M
; Cotán D
; Villanueva-Paz M
; de Lavera I
; Álvarez-Córdoba M
; Luzón-Hidalgo R
; Suárez-Rivero JM
; Tiscornia G
; Oropesa-Ávila M
Diseases
2016[Oct]; 4
(4
): ä PMID28933411
show ga
Lysosomal storage diseases (LSDs) describe a heterogeneous group of rare
inherited metabolic disorders that result from the absence or loss of function of
lysosomal hydrolases or transporters, resulting in the progressive accumulation
of undigested material in lysosomes. The accumulation of substances affects the
function of lysosomes and other organelles, resulting in secondary alterations
such as impairment of autophagy, mitochondrial dysfunction, inflammation and
apoptosis. LSDs frequently involve the central nervous system (CNS), where
neuronal dysfunction or loss results in progressive neurodegeneration and
premature death. Many LSDs exhibit signs of mitochondrial dysfunction, which
include mitochondrial morphological changes, decreased mitochondrial membrane
potential (??m), diminished ATP production and increased generation of reactive
oxygen species (ROS). Furthermore, reduced autophagic flux may lead to the
persistence of dysfunctional mitochondria. Gaucher disease (GD), the LSD with the
highest prevalence, is caused by mutations in the GBA1 gene that results in
defective and insufficient activity of the enzyme ?-glucocerebrosidase (GCase).
Decreased catalytic activity and/or instability of GCase leads to accumulation of
glucosylceramide (GlcCer) and glucosylsphingosine (GlcSph) in the lysosomes of
macrophage cells and visceral organs. Mitochondrial dysfunction has been reported
to occur in numerous cellular and mouse models of GD. The aim of this manuscript
is to review the current knowledge and implications of mitochondrial dysfunction
in LSDs.
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