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Pathological Insights into Neurodegenerative Diseases: Exploring Biomarkers and Diagnostic Innovations

Article

Last updated: 01 Jan 2025

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Subjects

-

Tags

Biochemistry

Abstract

Background: Neurodegenerative diseases, including Alzheimer's, Parkinson's, and Huntington's diseases, pose significant health challenges globally due to their chronic, progressive nature and severe impact on neurological function. Despite advances in symptom management, treatments remain insufficient in addressing underlying disease mechanisms. Molecular genetics has enabled critical insights into the molecular underpinnings of these diseases, with an emphasis on genetic mutations and biomarkers.

Aim: This article explores the genetic factors and biomarkers associated with neurodegenerative diseases, focusing on the role of amyloid-β, tau, and α-synuclein proteins. The aim is to examine how these proteins contribute to disease pathogenesis and how genetic research can lead to novel diagnostic and therapeutic innovations.

Methods: The review integrates research findings from molecular genetics, clinical studies, and recent advancements in neurodegenerative disease research. It examines the genetic variations and mutations in key genes, such as APP, PSEN1, and PSEN2, and their effects on disease onset and progression. The article also discusses biomarkers and diagnostic approaches, including genetic screening and protein identification.

Results: Key findings highlight the genetic underpinnings of Alzheimer's disease, particularly mutations in the APP, PSEN1, and PSEN2 genes. Variants like A673T and A673V show distinct effects on amyloid aggregation and neurodegeneration. Additionally, APOE's role in Alzheimer's pathogenesis is explored, emphasizing the differential effects of its isoforms on amyloid deposition and cognitive function. The article also underscores the importance of biomarkers in early diagnosis and personalized treatment strategies.

Conclusion: The research affirms that neurodegenerative diseases are heavily influenced by genetic factors, with specific mutations playing a pivotal role in their pathogenesis. Advancements in molecular genetics and biomarkers hold promise for developing targeted diagnostic tools and therapies. However, more research is needed to fully understand the complexity of these diseases and their treatment.

DOI

10.21608/ejchem.2024.338414.10854

Keywords

Alzheimer' s disease, amyloid-β, tau proteins, genetic mutations, biomarkers, Diagnostics, molecular genetics

Authors

First Name

Maram Mohammad Ahmad

Last Name

Basaad

MiddleName

-

Affiliation

First International Conference oKsa, Ministry of Health, East Jeddah hospital n Medicine

Email

ficmahac@gmail.com

City

-

Orcid

-

First Name

mssawed ahmed

Last Name

darrag

MiddleName

-

Affiliation

Ksa, Ministry of Health, abu arish hospital

Email

mdarrag@moh.gov.sa

City

-

Orcid

-

First Name

SAMI SAND AL

Last Name

OTIBI

MiddleName

-

Affiliation

Ksa, Ministry of Health, Ruwaydat Al-Ared General Hospital

Email

salotibi7@moh.cov.sa

City

-

Orcid

-

First Name

Badreah Salman

Last Name

AlDhafeeri

MiddleName

-

Affiliation

Ksa, Ministry of Health, PHC ALBALDIYA Hafar AlBatin

Email

bsaldhafeeri@moh.gov.sa

City

-

Orcid

-

First Name

Fayez Saleem

Last Name

Aldhaferi

MiddleName

-

Affiliation

Ksa, Ministry of Health, Central Blood Bank Hafar AlBatin

Email

aldhaferif@hotmail.com

City

-

Orcid

-

First Name

Mohammed Ibrahim

Last Name

zuayr

MiddleName

-

Affiliation

Ksa, Ministry of Health, King Fahad specialty hospital

Email

mizuayr@moh.gov.sa

City

-

Orcid

-

First Name

Assaf Dwai Ghazi

Last Name

Alotibi

MiddleName

-

Affiliation

Ksa, Ministry of Health, Dawadmi General Hospital

Email

assafda@moh.gov.sa

City

-

Orcid

-

First Name

Amal salman

Last Name

alyahya

MiddleName

-

Affiliation

Ksa, Ministry of Health, King Fahd General Hospital in Jeddah

Email

amsalyahya@moh.gov.sa

City

-

Orcid

-

First Name

MUTEB HASIR

Last Name

HASSANI

MiddleName

-

Affiliation

Ksa, Ministry of Health, King Fahd Central Hospital .jazan

Email

mhhassani@moh.gov.sa

City

-

Orcid

-

First Name

MARIAM ABDULLAH

Last Name

ALGHAMDI

MiddleName

-

Affiliation

Ksa, Ministry of Health, DIRIYAH HOSPITAL

Email

maalgamdee@moh.gov.sa

City

-

Orcid

-

First Name

Bidoor sabr

Last Name

al anezi

MiddleName

-

Affiliation

Ksa, Ministry of Health, Sharg almohmadih cintr care.. Hafar Al-Batin

Email

bdoora@moh.gov.sa

City

-

Orcid

-

First Name

Enas Abdu Yahya

Last Name

Yahya

MiddleName

-

Affiliation

Ksa, Ministry of Health, PHC ALNJAMEAH JIZAN

Email

eayahya@moh.gov.sa

City

-

Orcid

-

First Name

abdulkhalq abdullah

Last Name

alasmari

MiddleName

-

Affiliation

Ksa, Ministry of Health, mohayel Genenral hospital

Email

abdulkhalqaa@moh.gov.sa

City

-

Orcid

-

First Name

Yousef Obaid wasel

Last Name

Alhejaili

MiddleName

-

Affiliation

Ksa, Ministry of Health, Al , Salam Waqf Hospital in Medina

Email

yoalhejaili@moh.gov.sa

City

-

Orcid

-

First Name

NoraMahmoud

Last Name

Ramdan

MiddleName

-

Affiliation

Ministry of Health , Abo El Reesh Children hospital

Email

noramahmoudramdan@gmail.com

City

-

Orcid

-

Volume

67

Article Issue

13

Related Issue

46555

Issue Date

2024-12-01

Receive Date

2024-11-22

Publish Date

2024-12-01

Page Start

1,585

Page End

1,595

Print ISSN

0449-2285

Online ISSN

2357-0245

Article File

EJCHEM_Volume 67_Issue 13_Pages 1585-1595.pdf

PDF . 686.0kB

Link

https://ejchem.journals.ekb.eg/article_396059.html

Detail API

https://ejchem.journals.ekb.eg/service?article_code=396059

Order

396,059

Type

Review Articles

Type Code

444

Publication Type

Journal

Publication Title

Egyptian Journal of Chemistry

Publication Link

https://ejchem.journals.ekb.eg/

MainTitle

Pathological Insights into Neurodegenerative Diseases: Exploring Biomarkers and Diagnostic Innovations

Details

Type

Article

Created At

30 Dec 2024