Az örökletes Parkinson-kór mint a POLG-gén károsodásának új klinikai megjelenési formája

Illés, Anett; Balicza, Péter; Gál, Anikó; Pentelényi, Klára; Csabán, Dóra; Gézsi, András; Molnár, Viktor; Molnár, Mária Judit

doi:10.1556/650.2020.31724

Cited by 4 publications

(1 citation statement)

References 39 publications

(52 reference statements)

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“…It is known that mitochondrial dysfunction in Parkinson's disease plays a key role in the loss of dopaminergic neurons in the substantia nigra. Therefore, changes in the POLG gene may influence the development of various hereditary neurodegenerative diseases, including monogenic Parkinsonism (Illés et al, 2020 ).…”

Section: Resultsmentioning

confidence: 99%

Disease-gene prediction based on preserving structure network embedding

Tian²,

Ju³

2023

Front. Aging Neurosci.

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Many diseases, such as Alzheimer's disease (AD) and Parkinson's disease (PD), are caused by abnormalities or mutations of related genes. Many computational methods based on the network relationship between diseases and genes have been proposed to predict potential pathogenic genes. However, how to effectively mine the disease-gene relationship network to predict disease genes better is still an open problem. In this paper, a disease-gene-prediction method based on preserving structure network embedding (PSNE) is introduced. In order to predict pathogenic genes more effectively, a heterogeneous network with multiple types of bio-entities was constructed by integrating disease-gene associations, human protein network, and disease-disease associations. Furthermore, the low-dimension features of nodes extracted from the network were used to reconstruct a new disease-gene heterogeneous network. Compared with other advanced methods, the performance of PSNE has been confirmed more effective in disease-gene prediction. Finally, we applied the PSNE method to predict potential pathogenic genes for age-associated diseases such as AD and PD. We verified the effectiveness of these predicted potential genes by literature verification. Overall, this work provides an effective method for disease-gene prediction, and a series of high-confidence potential pathogenic genes of AD and PD which may be helpful for the experimental discovery of disease genes.

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Section: Resultsmentioning

confidence: 99%

Disease-gene prediction based on preserving structure network embedding

Tian²,

Ju³

2023

Front. Aging Neurosci.

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Pluripotent Stem Cell Derived Neurons as In Vitro Models for Studying Autosomal Recessive Parkinson’s Disease (ARPD): PLA2G6 and Other Gene Loci

Gopurappilly

2021

Advances in Experimental Medicine and Biology

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Gene Therapeutic Approaches for the Treatment of Mitochondrial Dysfunction in Parkinson’s Disease

Prasuhn

Brüggemann

2021

Genes

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Background: Mitochondrial dysfunction has been identified as a pathophysiological hallmark of disease onset and progression in patients with Parkinsonian disorders. Besides the overall emergence of gene therapies in treating these patients, this highly relevant molecular concept has not yet been defined as a target for gene therapeutic approaches. Methods: This narrative review will discuss the experimental evidence suggesting mitochondrial dysfunction as a viable treatment target in patients with monogenic and idiopathic Parkinson’s disease. In addition, we will focus on general treatment strategies and crucial challenges which need to be overcome. Results: Our current understanding of mitochondrial biology in parkinsonian disorders opens up the avenue for viable treatment strategies in Parkinsonian disorders. Insights can be obtained from primary mitochondrial diseases. However, substantial knowledge gaps and unique challenges of mitochondria-targeted gene therapies need to be addressed to provide innovative treatments in the future. Conclusions: Mitochondria-targeted gene therapies are a potential strategy to improve an important primary disease mechanism in Parkinsonian disorders. However, further studies are needed to address the unique design challenges for mitochondria-targeted gene therapies.

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Az örökletes Parkinson-kór mint a POLG-gén károsodásának új klinikai megjelenési formája

Cited by 4 publications

References 39 publications

Disease-gene prediction based on preserving structure network embedding

Disease-gene prediction based on preserving structure network embedding

Pluripotent Stem Cell Derived Neurons as In Vitro Models for Studying Autosomal Recessive Parkinson’s Disease (ARPD): PLA2G6 and Other Gene Loci

Gene Therapeutic Approaches for the Treatment of Mitochondrial Dysfunction in Parkinson’s Disease

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