Healthcare (Commonwealth Union) – The mitochondria, often referred to as the “powerhouses” of the cell, are essential organelles found in nearly every eukaryotic organism. These tiny, double-membraned structures play a critical role in generating the energy needed for cells to carry out their functions effectively. Mitochondria are responsible for producing adenosine triphosphate (ATP), the primary energy currency used by cells to perform various tasks, from muscle contraction to neurotransmission. Multiple studies have shown how many diseases are linked to mitochondrial destruction.
Scientists at the University of Alberta have conducted new research that could simplify the diagnosis of serious illnesses affecting the body’s energy production. In a recent study, researchers examined 297 individuals suspected of having primary mitochondrial disorders to better understand their origins and enhance both diagnosis and treatment. Researchers of the study highlighted the fact that approximately one in five thousand people is affected by a genetic mitochondrial disease. Mitochondria play a crucial role in our cells, and any malfunction can have severe consequences.
Anastasia Ambrose, the study’s lead author, indicated that mitochondria generate energy for every cell, tissue, and organ in our body. If there are genetic variations in our mitochondrial DNA and the mitochondria are not working as they should, any organ can be impacted.
Ambrose, a master’s student in the Department of Medical Genetics further pointed out that those are the primary areas of concern that they typically see the most significant issues in organs with high energy demands, such as the liver, kidneys, skeletal muscles, brain, and heart.
Researchers also pointed out that there is no cure, but treatment can help prevent dangerous complications, making a swift and accurate diagnosis essential. However, these conditions are challenging to recognize because their symptoms overlap with many other disorders, including neuromuscular diseases like myasthenia gravis and muscular dystrophy.
Ambrose notes that, at present, a definitive diagnosis is only possible through molecular genetic testing, which can be resource-intensive.
“At the Metabolic Genetics Clinic, the most common referral they get is for suspected primary mitochondrial disorders, but most of the time, these patients are not diagnosed with a mitochondrial disorder. This may result in an overuse of genetic testing for a suspected mitochondrial disorder.”
This research was the first to evaluate the use of mitochondrial DNA testing in urine, a more affordable and less invasive alternative to muscle biopsy. As a result, individuals with primary mitochondrial disorders can receive a faster and more accurate diagnosis.
The study identified key differences in how these disorders impact adults and children. In adults, mitochondrial disorders are more often caused by mutations in mitochondrial DNA, while in children, they are typically linked to nuclear DNA mutations. Researchers also noted that muscle-related symptoms were more prevalent in adults, whereas brain and developmental issues were more common in children.
Recognizing these distinctions can help doctors select the most appropriate genetic tests and tailor treatment and management plans based on a patient’s age.
The principal investigator Saadet Andrews, who is a professor of medical genetics and a member of the Women and Children’s Health Research Institute (WCHRI) and the Neuroscience and Mental Health Institute, indicated that their goal was to highlight the differences between primary mitochondrial disorders and non-PMDs and provide specific guidance on genetic testing based on patients’ age groups.
“For example, in children, I wouldn’t recommend doing a muscle biopsy as a first-line investigation if there is a suspected primary mitochondrial disorder, as it is invasive, expensive and requires general anesthesia.”
Ambrose anticipates that their research will simplify the process of identifying these disorders, emphasizing that their goal is to assist doctors and clinicians in determining which patients should undergo specific genetic tests, ultimately shortening the time it takes for individuals to receive a diagnosis.
The study was supported by the Stollery Children’s Hospital Foundation through WCHRI.
