scholarly journals Genetic Risk Factors and Lysosomal Function in Parkinson Disease

2020 ◽  
Author(s):  
Marcella Vieira Barroso Montenegro ◽  
Carlos Eduardo de Melo Amaral ◽  
Luiz Carlos Santana da Silva
Keyword(s):  
Risk Factors ◽  
Parkinson Disease ◽  
Genetic Risk ◽  
Genetic Risk Factors ◽  
Lysosomal Function

Mitochondrial DNA variants as genetic risk factors for Parkinson disease

2016 ◽  
Vol 23 (8) ◽  
pp. 1289-1300 ◽  
Author(s):  
C. W. Liou ◽  
J. H. Chuang ◽  
J. B. Chen ◽  
M. M. Tiao ◽  
P. W. Wang ◽  
...  
Keyword(s):  
Risk Factors ◽  
Mitochondrial Dna ◽  
Parkinson Disease ◽  
Genetic Risk ◽  
Genetic Risk Factors ◽  
Dna Variants ◽  
Mitochondrial Dna Variants

scholarly journals The Emerging Role of the Lysosome in Parkinson’s Disease

Cells ◽  
2020 ◽  
Vol 9 (11) ◽  
pp. 2399
Author(s):  
Alba Navarro-Romero ◽  
Marta Montpeyó ◽  
Marta Martinez-Vicente
Keyword(s):  
Risk Factors ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Genetic Risk ◽  
Lysosomal Storage Diseases ◽  
Genetic Risk Factors ◽  
Brain Regions ◽  
Lysosomal Storage ◽  
Lysosomal Function ◽  
Lysosomal Dysfunction

Lysosomal function has a central role in maintaining neuronal homeostasis, and, accordingly, lysosomal dysfunction has been linked to neurodegeneration and particularly to Parkinson’s disease (PD). Lysosomes are the converging step where the substrates delivered by autophagy and endocytosis are degraded in order to recycle their primary components to rebuild new macromolecules. Genetic studies have revealed the important link between the lysosomal function and PD; several of the autosomal dominant and recessive genes associated with PD as well as several genetic risk factors encode for lysosomal, autophagic, and endosomal proteins. Mutations in these PD-associated genes can cause lysosomal dysfunction, and since α-synuclein degradation is mostly lysosomal-dependent, among other consequences, lysosomal impairment can affect α-synuclein turnover, contributing to increase its intracellular levels and therefore promoting its accumulation and aggregation. Recent studies have also highlighted the bidirectional link between Parkinson’s disease and lysosomal storage diseases (LSD); evidence includes the presence of α-synuclein inclusions in the brain regions of patients with LSD and the identification of several lysosomal genes involved in LSD as genetic risk factors to develop PD.

1655-P: Genetic Risk Factors for Incident Cardiovascular Disease in Type 2 Diabetes Patients

Diabetes ◽  
2020 ◽  
Vol 69 (Supplement 1) ◽  
pp. 1655-P
Author(s):  
SOO HEON KWAK ◽  
JOSEP M. MERCADER ◽  
AARON LEONG ◽  
BIANCA PORNEALA ◽  
PEITAO WU ◽  
...  
Keyword(s):  
Risk Factors ◽  
Type 2 Diabetes ◽  
Cardiovascular Disease ◽  
Genetic Risk ◽  
Genetic Risk Factors ◽  
Incident Cardiovascular Disease ◽  
Diabetes Patients

107-OR: Novel Genetic Risk Factors Influence Islet Autoimmunity Progression

Diabetes ◽  
2020 ◽  
Vol 69 (Supplement 1) ◽  
pp. 107-OR
Author(s):  
SUNA ONENGUT-GUMUSCU ◽  
UMA DEVI PAILA ◽  
WEI-MIN CHEN ◽  
AAKROSH RATAN ◽  
ZHENNAN ZHU ◽  
...  
Keyword(s):  
Risk Factors ◽  
Genetic Risk ◽  
Genetic Risk Factors ◽  
Islet Autoimmunity
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