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Mitochondrial gene mutation: the ageing process and degenerative diseases
A W Linnane1, A Baumer, R J Maxwell
1Centre for Molecular Biology and Medicine, Monash University, Clayton, Victoria, Australia.
Biochemistry International
|December 1, 1990
Summary
An age-related mitochondrial DNA deletion was found in human tissues. This common deletion increases with age and may impact energy production and age-related diseases.
Area of Science:
- Genetics
- Molecular Biology
- Gerontology
Background:
- Mitochondrial DNA (mtDNA) deletions are implicated in aging and disease.
- The prevalence and origin of common mtDNA deletions in healthy individuals are not fully understood.
Purpose of the Study:
- To investigate the occurrence and age-dependency of a specific 5 kb mtDNA deletion in human autopsy tissues.
- To determine if this deletion is associated with aging or specific mitochondrial diseases.
Main Methods:
- Polymerase chain reaction (PCR) amplification of total DNA from autopsy tissues.
- Analysis of mtDNA from subjects ranging from 80 minutes to 87 years of age.
- Quantification of the 5 kb deletion across different age groups and tissues.
Main Results:
- A 5 kb deletion in mtDNA, located between nucleotides 8470 and 13459, was identified.
- This deletion was present in all adult tissues after 30 PCR cycles but detected in infant tissues only after 60 cycles.
- The frequency of the deletion increased with age.
Conclusions:
- The 5 kb mtDNA deletion occurs naturally and is age-related, not necessarily linked to mitochondrial disease.
- Accumulation of this deletion may lead to reduced bioenergetic capacity with age.
- This age-related mtDNA deletion could influence the aging process and predispose individuals to degenerative diseases.