Mitochondrial Mutation Detection Comprehensive Panel

The mitochondria are considered to be the energy factory of the body. The primary role of mitochondria is to process oxygen and convert the food ingested into energy. Since this organelle is responsible for about 90% of the body's energy production, mitochondrial mutations can be detrimental.

These mutations usually lead to mitochondrial disorders that may occur due to the disruption in the mitochondria's function. Due to this, the body receives less energy, and organ dysfunctions might occur. These dysfunctions may be prevalent in organs like the heart, muscles, and brain, which require high energy to function effectively.

Furthermore, mitochondrial disorders are usually born due to mutations in the mitochondrial DNA (mtDNA) or the nuclear DNA. Additionally, these disorders can also be caused by environmental toxins. 

Some of the most common diseases that are a result of mitochondrial mutations are:

• Myoclonic epilepsy with ragged red fibres (MERRF)

• Neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome

• Leber hereditary optic neuropathy (LHON)

• Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome

The mitochondria mutation detection comprehensive panel test is used to identify the alterations in the genomic and mitochondrial DNA. It is a standard blood test where the clinical lab technician draws blood from the patient's arm, usually at the bend of the elbow. This blood is stored and analysed to detect the presence of mitochondrial mutations. 

The test is usually done using molecular DNA testing and biochemical methods, depending on factors like age of onset and family history, among others. Additionally, this test is generally targeted at newborns or infants since they are at a higher risk of having mitochondrial disorders. However, this test is for every age group, especially if the following symptoms plague them:

• Muscle issues like weakness, pain, and intolerance to exercise
• Learning disabilities
• Respiratory ailments
• Increased risk of infection
• Neurological problems like seizures, migraines, or strokes
• Vision or hearing problems
• A build-up of lactate, leading to lactic acidosis
• Dementia

If untreated, mitochondrial disorders may also lead to severe conditions like diabetes, Alzheimer's, cancer, and muscular dystrophy. However, there is no known treatment for mitochondrial disorders at the moment. This disease is kept in check using supportive therapy. This may include nutritional management, exercise, or vitamin or amino acid supplements.

Moreover, long-term care may require appointments with various neurologists, endocrinologists, ophthalmologists, audiologists, and cardiologists. It is important to consult a doctor as soon as one or more of the mentioned symptoms appear. If left untreated, they can cause life-threatening conditions. As a result, yearly follow-ups with the doctor are advisable to handle this condition better.