Related Experiment Video

Updated: Aug 11, 2026

Generalized Psychophysiological Interaction (PPI) Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease
09:38

Generalized Psychophysiological Interaction (PPI) Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease

Published on: November 14, 2017

Lack of association between MnSOD gene polymorphism and sporadic Alzheimer's disease

Mariacarla Ventriglia1, Luisella Bocchio Chiavetto, Catia Scassellati

  • 1Genetics Unit, IRCCS "S. Giovanni di Dio", Ospedale Fatebenefratelli, Brescia, Italy. genetica@oh-fbf.it

Aging Clinical and Experimental Research
|February 21, 2006
PubMed
Abstract

Insights

The Ala-9Val polymorphism in the Manganese Superoxide Dismutase (MnSOD) gene is not linked to Alzheimer's disease (AD) susceptibility in the Italian population. This study found no significant genetic association, suggesting other factors contribute to AD pathogenesis.

Area of Science:

  • Neuroscience
  • Genetics
  • Biochemistry

Background:

  • Mitochondrial dysfunction and oxidative damage are implicated in Alzheimer's disease (AD) pathogenesis.
  • Manganese superoxide dismutase (MnSOD) protects mitochondria from oxidative stress.
  • Increased MnSOD mRNA levels in AD patients suggest a role for oxidative alterations.

Purpose of the Study:

  • To investigate the association between the MnSOD gene's Ala-9Val polymorphism and Alzheimer's disease (AD) in an Italian cohort.
  • To determine if this specific genetic variation impacts AD susceptibility.

Main Methods:

  • Genotyping of the Ala-9Val polymorphism using PCR amplification and SSCP analysis.
  • Study included 227 AD patients and 198 healthy controls from the Italian population.
  • Analysis considered APOE carrier status for stratification.

Main Results:

  • No significant differences in genotype frequencies were observed between AD patients and controls.
  • No significant differences in allele frequencies were found between the two groups.
  • Stratification by APOE carrier status did not reveal any significant associations.

Conclusions:

  • The Ala-9Val polymorphism in the MnSOD gene is not associated with genetic susceptibility to Alzheimer's disease.
  • These findings suggest that this specific MnSOD variant does not play a significant role in AD development in the studied population.

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

Related Concept Videos

Alzheimer Disease l: Introduction01:29

Alzheimer Disease l: Introduction

Alzheimer disease is a chronic, progressive, and irreversible neurodegenerative disorder and the most common cause of dementia in older adults. It leads to gradual neuronal loss, causing cognitive decline, behavioral changes, and loss of functional independence.Risk Factors and EtiologyThe disease is multifactorial. Age is the strongest risk factor, with prevalence doubling every 5 years after age 65. Genetic factors include mutations in genes such as APP, PSEN1, and PSEN2, which are associated...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
Alzheimer's Disease: Overview01:26

Alzheimer's Disease: Overview

Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ and tau...
Alzheimer Disease ll: Pathophysiology01:23

Alzheimer Disease ll: Pathophysiology

Alzheimer disease involves structural changes in the brain that begin long before symptoms appear. The most distinctive features are extracellular neuritic plaques and intracellular neurofibrillary tangles.Neuritic plaques form in the cerebral cortex and around blood vessels. These plaques contain a dense core of beta-amyloid (Aβ)—a toxic protein fragment that clumps outside neurons. The core is surrounded by damaged neuronal extensions, as well as reactive astrocytes and microglia. Abnormal...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
Parkinson Disease ll: Pathophysiology01:24

Parkinson Disease ll: Pathophysiology

Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...