A recent study published in the journal Molecular Genetics and Metabolism offers a new way to understand and classify primary mitochondrial disorders, such as thymidine kinase 2 deficiency (TK2d).
In these conditions, the mitochondria — the “power houses” of our cells — do not work properly. Although doctors understand the conditions, they are still working on a standard definition of primary mitochondrial disorders. The goal of this study was to create a clear and organized system to define and classify primary mitochondrial disorders.
The researchers found that many different genetic changes — 452 in total — can lead to primary mitochondrial disorders. They placed these genes into 18 groups based on what they do in the body.
“The importance of a clear — and ideally universally accepted — definition of PMD [primary mitochondrial disorders] is not trivial or purely academic,” the researchers said. “It has implications for patients and families as it allows access to appropriate, dedicated specialist care.”
It also helps doctors choose the correct genetic tests and treatments. When diseases are clearly defined, researchers can better organize clinical trials. This gives patients a chance to try new experimental treatments. Clear definitions also make it easier for governments to approve new medicines.
In many countries, health insurance and payment for care depend on disease codes and classification systems. A strong classification system can also help families get financial help and connect with patient support groups.
Read more about TK2d treatment and care
The study also examined how primary mitochondrial disorders can affect many parts of the body. The most common problems affect the brain and nerves (21.1%). These include low muscle tone (hypotonia), delays in learning and development, seizures and trouble with balance (ataxia). Eye problems (10.3%) were also common, such as damage to the optic nerve and fast, uncontrolled eye movements. Muscle weakness (9.0%), stomach and digestion problems (8.3%) and heart problems (7.9%) were also seen often.
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