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Mutations

Mutations

Mutations

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

Point and Frameshift Mutations

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...

Parkinson Disease ll: Pathophysiology

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...

Translation

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life

Translation

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life

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Related Experiment Video

Updated: Jun 4, 2026

Sequential Extraction of Soluble and Insoluble Alpha-Synuclein from Parkinsonian Brains

Sequential Extraction of Soluble and Insoluble Alpha-Synuclein from Parkinsonian Brains

Published on: January 5, 2016

Point Mutations in the α-Synuclein Gene.

A Parsian¹, J S Perlmutter

¹Department of Molecular and Cellular Biology, University of Louisville Health Sciences Center, Louisville, KY.

Methods in Molecular Medicine

|February 15, 2011

Summary

Genetic mutations in the alpha-synuclein gene are linked to early-onset Parkinson's disease (PD). This study identifies a specific missense mutation (G209A) causing the Ala53Thr substitution, associated with Lewy bodies in affected families.

Area of Science:

Neuroscience
Genetics
Neurology

Background:

Idiopathic Parkinson's disease (PD) is a neurodegenerative disorder primarily sporadic and age-dependent.
A small percentage of PD cases exhibit familial inheritance, sometimes as an autosomal dominant trait.
Previous linkage studies for PD on chromosome 4 yielded inconsistent results across different families.

Purpose of the Study:

To investigate the genetic basis of early-onset Parkinson's disease in familial cases.
To identify specific gene mutations responsible for the observed inheritance patterns.
To correlate genetic findings with pathological hallmarks of Parkinson's disease.

Main Methods:

Genetic linkage analysis in affected families.
DNA sequencing of candidate genes, specifically the alpha-synuclein gene.

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Detection of Disease-associated α-synuclein by Enhanced ELISA in the Brain of Transgenic Mice Overexpressing Human A53T Mutated α-synuclein

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Analysis of mutation segregation within families.

Correlation of genetic findings with clinical presentation and neuropathology (Lewy bodies).

Main Results:

A missense mutation (G209A) in the alpha-synuclein gene was identified in an Italian family with early-onset PD.
This mutation, resulting in an Ala53Thr substitution, was also found in Greek families with early-onset PD.
The identified mutation segregates with the disease in affected families and creates a Tsp45I restriction site.
This represents the first report of a mutation causing idiopathic PD with Lewy body pathology.

Conclusions:

Mutations in the alpha-synuclein gene are a cause of early-onset familial Parkinson's disease.
The Ala53Thr substitution in alpha-synuclein is linked to PD and associated Lewy body formation.
Genetic analysis provides critical insights into the molecular mechanisms underlying Parkinson's disease.