Literature DB >> 32399804

Application of Next-Generation Sequencing in Neurodegenerative Diseases: Opportunities and Challenges.

Cigir Biray Avci1, Behrouz Shademan2, Masoud Nikanfar3, Alireza Nourazarian4,5.   

Abstract

Genetic factors (gene mutations) lead to various rare and prevalent neurological diseases. Identification of underlying mutations in neurodegenerative diseases is of paramount importance due to the heterogeneous nature of the genome and different clinical manifestations. An early and accurate molecular diagnosis are cardinal for neurodegenerative patients to undergo proper therapeutic regimens. The next-generation sequencing (NGS) method examines up to millions of sequences at a time. As a result, the rare molecular diagnoses, previously presented with "unknown causes", are now possible in a short time. This method generates a large amount of data that can be utilized in patient management. Since each person has a unique genome, the NGS has transformed diagnostic and therapeutic strategies into sequencing and individual genomic mapping. However, this method has disadvantages like other diagnostic methods. Therefore, in this review, we aimed to briefly summarize the NGS method and correlated studies to unravel the genetic causes of neurodegenerative diseases including Alzheimer's disease, Parkinson's disease, epilepsy, and MS. Finally, we discuss the NGS challenges and opportunities in neurodegenerative diseases.

Entities:  

Keywords:  Gene panel; Neurological diseases; Next-generation sequencing (NGS); Whole exome sequencing (WES); Whole genome sequencing (WGS)

Mesh:

Year:  2020        PMID: 32399804     DOI: 10.1007/s12017-020-08601-7

Source DB:  PubMed          Journal:  Neuromolecular Med        ISSN: 1535-1084            Impact factor:   3.843


  85 in total

Review 1.  Genetics of Alzheimer disease.

Authors:  Lynn M Bekris; Chang-En Yu; Thomas D Bird; Debby W Tsuang
Journal:  J Geriatr Psychiatry Neurol       Date:  2010-12       Impact factor: 2.680

2.  A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.

Authors:  Arunkanth Ankala; Cristina da Silva; Francesca Gualandi; Alessandra Ferlini; Lora J H Bean; Christin Collins; Alice K Tanner; Madhuri R Hegde
Journal:  Ann Neurol       Date:  2014-12-17       Impact factor: 10.422

3.  Isolation and characterisation of acetylcholinesterase inhibitors from Aquilaria subintegra for the treatment of Alzheimer's disease (AD).

Authors:  Hirbod Bahrani; Jamaludin Mohamad; Mohammad Javad Paydar; Hussin A Rothan
Journal:  Curr Alzheimer Res       Date:  2014-02       Impact factor: 3.498

4.  De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.

Authors:  Giulia Barcia; Matthew R Fleming; Aline Deligniere; Valeswara-Rao Gazula; Maile R Brown; Maeva Langouet; Haijun Chen; Jack Kronengold; Avinash Abhyankar; Roberta Cilio; Patrick Nitschke; Anna Kaminska; Nathalie Boddaert; Jean-Laurent Casanova; Isabelle Desguerre; Arnold Munnich; Olivier Dulac; Leonard K Kaczmarek; Laurence Colleaux; Rima Nabbout
Journal:  Nat Genet       Date:  2012-10-21       Impact factor: 38.330

5.  Gene-Environment-Time Interactions in Neurodegenerative Diseases: Hypotheses and Research Approaches.

Authors:  Walter G Bradley; Angeline S Andrew; Bryan J Traynor; Adriano Chiò; Tanya H Butt; Elijah W Stommel
Journal:  Ann Neurosci       Date:  2018-12-04

6.  Next-generation sequencing technologies and applications for human genetic history and forensics.

Authors:  Eva C Berglund; Anna Kiialainen; Ann-Christine Syvänen
Journal:  Investig Genet       Date:  2011-11-24

7.  Genomic instability in the PARK2 locus is associated with Parkinson's disease.

Authors:  Wojciech Ambroziak; Dariusz Koziorowski; Kinga Duszyc; Paulina Górka-Skoczylas; Anna Potulska-Chromik; Jarosław Sławek; Dorota Hoffman-Zacharska
Journal:  J Appl Genet       Date:  2015-04-02       Impact factor: 3.240

8.  A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability.

Authors:  Giulia Campostrini; Jacopo C DiFrancesco; Barbara Castellotti; Raffaella Milanesi; Tomaso Gnecchi-Ruscone; Mattia Bonzanni; Annalisa Bucchi; Mirko Baruscotti; Carlo Ferrarese; Silvana Franceschetti; Laura Canafoglia; Francesca Ragona; Elena Freri; Angelo Labate; Antonio Gambardella; Cinzia Costa; Cinzia Gellera; Tiziana Granata; Andrea Barbuti; Dario DiFrancesco
Journal:  Front Mol Neurosci       Date:  2018-08-06       Impact factor: 5.639

9.  Analysis of rare copy number variation in absence epilepsies.

Authors:  Laura Addis; Richard E Rosch; Antonio Valentin; Andrew Makoff; Robert Robinson; Kate V Everett; Lina Nashef; Deb K Pal
Journal:  Neurol Genet       Date:  2016-03-22

10.  Differential expression of miRNA 155 and miRNA 146a in Parkinson's disease patients.

Authors:  Elisa Caggiu; Kai Paulus; Giuseppe Mameli; Giannina Arru; Gian Pietro Sechi; Leonardo A Sechi
Journal:  eNeurologicalSci       Date:  2018-09-14
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  2 in total

Review 1.  Advancements in Genomic and Behavioral Neuroscience Analysis for the Study of Normal and Pathological Brain Function.

Authors:  Annalisa M Baratta; Adam J Brandner; Sonja L Plasil; Rachel C Rice; Sean P Farris
Journal:  Front Mol Neurosci       Date:  2022-06-23       Impact factor: 6.261

2.  Investigation of serum levels of orexin-A, transforming growth factor β, and leptin in patients with multiple sclerosis.

Authors:  Sepideh Moharami; Alireza Nourazarian; Masoud Nikanfar; Delara Laghousi; Behrouz Shademan; Omid Joodi Khanghah; Fatemeh Khaki-Khatibi
Journal:  J Clin Lab Anal       Date:  2021-12-11       Impact factor: 2.352

  2 in total

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