MT-ND5 rs28359178: Understanding Your Mitochondrial Variant
The rs28359178 variant, also known as G13708A, is a single nucleotide polymorphism located within the mitochondrial DNA. It is primarily recognized as a genetic marker used to identify the H2a5 mitochondrial haplogroup.
What each genotype means
Typical mitochondrial variant profile
This genotype represents the common or reference state for this mitochondrial position in many human populations. Research indicates that carrying this reference allele is generally compatible with normal mitochondrial function. As with all mitochondrial variants, its clinical significance is best understood within the context of your broader mitochondrial haplogroup.
This is the most common genotype globally, appearing in approximately 93% of individuals based on aggregate population data.
Potential mitochondrial heteroplasmy
This genotype indicates that you possess both the G and A alleles in your mitochondrial DNA, a state known as heteroplasmy. The clinical impact of this mixture can be variable, as it depends on the proportion of mitochondria carrying the A allele versus the G allele. In some scientific literature, the 13708A allele has been studied for its potential influence on susceptibility to certain neurological conditions, such as multiple sclerosis, though evidence is mixed and often population-specific. Please discuss these findings with your clinician or a genetics specialist to understand how this might relate to your personal health.
Heteroplasmy is less common than homoplasmy and occurs at varying frequencies depending on the tissue type and individual; it is not typically characterized by a single global frequency.
Mitochondrial variant carrier
This genotype indicates that your mitochondria primarily carry the A allele at this position (homoplasmy). This specific variant is a known marker for certain mitochondrial haplogroups, such as J, and has been investigated in various studies regarding its association with susceptibility to complex traits or neurological conditions. Scientific evidence remains mixed, and the presence of this variant does not indicate a diagnosis; its impact on health may be influenced by your overall genetic background and other mitochondrial variants.
Carried by roughly 7% of the global population, though this frequency varies significantly by ancestry and haplogroup affiliation.
What is rs28359178?
The rs28359178 variant is a specific change in the mitochondrial genome, occurring at position 13,708. Unlike most of the DNA in your cells, which is found in the nucleus and inherited from both parents, mitochondrial DNA (mtDNA) is inherited exclusively from the mother. This variant is a single nucleotide polymorphism (SNP), meaning a single building block of DNA has been substituted. In the case of rs28359178, the standard reference base is typically a guanine (G), while the alternative allele is an adenine (A). Because it is located on the mitochondrial chromosome, it does not follow the standard two-copy inheritance pattern seen in nuclear genes. Instead, it exists in the mitochondria, which are the energy-producing powerhouses of your cells. Scientists track these specific variations to map human migration patterns and define maternal lineages, known as haplogroups.
The Role of the ND5 Gene
The rs28359178 variant is situated within the ND5 gene, which stands for mitochondrially encoded NADH dehydrogenase 5. This gene provides instructions for creating a protein that is a critical component of Complex I, the first enzyme in the mitochondrial electron transport chain. This chain is essential for oxidative phosphorylation, the process by which cells generate adenosine triphosphate (ATP), the primary energy currency of the body. Because the mitochondria are responsible for powering nearly every cellular process, genes like ND5 are vital for maintaining metabolic health. Variations within mitochondrial genes are often studied to understand how energy production efficiency might differ between individuals or populations. While some mutations in ND5 can be associated with rare mitochondrial disorders, rs28359178 is primarily categorized as an ancestral marker rather than a pathogenic mutation.
Research and Evidence
Current scientific literature identifies rs28359178 primarily as a phylogenetic marker. It is used by geneticists to define the H2a5 haplogroup, which helps researchers trace maternal ancestry. In the context of clinical genetics, there is currently no strong evidence suggesting that this specific variant causes disease or significantly alters the function of the ND5 protein in a way that impacts health. Most research involving this SNP focuses on its utility in population genetics and evolutionary studies rather than clinical diagnostics. Because mitochondrial DNA is passed down through maternal lines, this variant remains stable across generations unless a new mutation occurs. If you have encountered this variant in a personal genetic report, it is important to understand that it is generally considered a neutral marker of ancestry. It does not provide information about your risk for specific diseases or your response to medications.
Population Frequency
The rs28359178 variant is found at a global minor allele frequency (GMAF) of approximately 0.07103. This frequency indicates that the variant is present in a notable portion of the population, though it is not the most common version of the sequence. Because mitochondrial variants are tied to specific maternal lineages, their distribution is often highly dependent on geographic and ancestral background. You may find higher or lower frequencies of this variant depending on the specific population group being studied. These frequencies are calculated using large-scale genomic databases, such as the 1000 Genomes Project and gnomAD, which aggregate data from diverse individuals worldwide. Understanding these frequencies helps scientists distinguish between rare, potentially harmful mutations and common ancestral variations that are simply part of the natural diversity of the human genome.
What This Information Means for You
Learning about your genetic variants can be an educational experience, but it is important to maintain perspective on what this data represents. The rs28359178 variant is a tool for understanding your maternal ancestry, not a medical diagnostic tool. Because it is a neutral marker, it does not indicate a health condition or a need for medical intervention. You cannot change your mitochondrial DNA, and there are no lifestyle or medical actions associated with this specific SNP. If you are concerned about your health or have questions about mitochondrial function, the best course of action is to consult with a qualified healthcare provider or a genetic counselor. They can help you interpret your overall health profile in the context of your family history and clinical symptoms, rather than focusing on individual, non-pathogenic variants found in your genetic data.
How common is this variant?
The rs28359178 variant has a global minor allele frequency of approximately 0.07103, reflecting its presence as a common ancestral marker.
Frequently asked questions
Is rs28359178 a disease-causing mutation?
No, rs28359178 is considered a neutral ancestral marker. It is used to identify mitochondrial haplogroups and is not associated with any known disease.
Can I change my mitochondrial DNA?
No, mitochondrial DNA is inherited from your mother and remains constant throughout your life. There are no lifestyle changes or medical treatments that can alter your mitochondrial sequence.
What is a mitochondrial haplogroup?
A mitochondrial haplogroup is a group of people who share a common maternal ancestor. These groups are defined by specific patterns of variations in mitochondrial DNA, like rs28359178.
Should I be worried if I have the A allele?
There is no reason for concern. The A allele is simply a genetic marker used for ancestry tracking and does not indicate a health risk or medical condition.
Sources & further reading
Educational information only, last refreshed 9/14/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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