Mitochondria are the organelles responsible for cellular respiration, the body’s energy plants, where sugar and fat are transformed. These batteries of the body, which provide energy for any activity (from thinking to the heartbeat or writing), suffer from disorders of the more than 1,000 proteins involved in their function or 150 identified mutations – mitochondria have their own DNA – that they end in a mitochondrial disease. An investigation published in Nature by Canadian biologist Bryan G. Hughes on the relationship of coenzyme CoQ10 deficiency with these ailments, estimates that, compared to the few hundred cases identified, which are considered rare, the prevalence of these disorders is one in 4,300 individuals. According to Carlos Santos, professor of Cell Biology at the Pablo de Olavide University (Seville), “there are some 300 different mitochondrial diseases and each one has its peculiarities, so one of the great problems is the complexity of the diagnosis.” This difficulty leads many people to suffer the effects of this stealthy disease for years without knowing its origin.
At the center of Santos, researcher at the Andalusian Center for Developmental Biology and Center for Biomedical Research in Network of the Carlos III Health Institute of rare diseases (Ciberer), there have been cases of people over 45 years of age who had unexplained symptoms since the age of 25 or of a teacher who spent his entire career overcoming the ailment due to the lack of diagnosis.
In this sense, Santos assures that “there is a great distance between basic and clinical research and a communication bridge is needed to identify mitochondrial disease in primary care.” To bridge this gap, Santos has organized this July 15 and 16 a summer course at the Pablo de Olavide University in Carmona, with the collaboration of Ciberer, in which some of the main Spanish specialists participate.
Very serious cases can be detected at birth. But the secondary ones, which are manifested in lack of control of movements, fatigue, tiredness, loss of reflexes or eye problems, can be suffered for years
According to the biologist, very serious cases can be detected at birth. But the secondary ones, which are manifested in lack of control of movements, fatigue, tiredness, loss of reflexes or eye problems, can drag on for years, although they could be detected earlier.
Treatment is complex, as they are diseases that involve mutations in nuclear or mitochondrial DNA, but there are treatments to compensate for certain deficiencies (such as coenzyme Q10) or palliative symptoms.
Mitochondrial diseases especially affect the organs and systems that require a greater energy supply: brain, heart, liver, skeletal muscles, kidneys, retina, ears, endocrine and respiratory.
Symptoms range from loss of motor control (balance, epilepsy, or tremors), to muscle weakness, pain, gastrointestinal disorders, swallowing difficulties, growth retardation, heart disease, liver disease, diabetes, respiratory complications, blindness, cataracts , deafness and a dozen other pathologies.
The heterogeneity of the disease and underdiagnosis are the main problems of a pathology that is usually progressive and multi-systemic. An investigation published in Biofactors on the deficiency of coenzyme Q10, fundamental in mitochondrial function, he warns that “secondary cases can be underestimated, since many of its clinical manifestations are shared with other pathologies”.
Treatment is complex, as they are diseases that involve mutations in nuclear and mitochondrial DNA, but there are treatments to compensate for certain deficiencies (such as coenzyme Q10) or palliative symptoms
Santos explains that detection methods range from the most common blood serum analysis to genetic diagnostics. But, for now, all these methods require complex validation due to the multiplicity of factors, according to research by the team of which the biologist is part and published in Science Direct. This work on CoQ10 deficiency is complemented by a online platform, which is updated with the identification of new cases, to determine possible signs of a mitochondrial disease.
Guillermo López Lluch, also a researcher at the Pablo de Olavide University, affirms in an article published in The conversation, that the “loss of capacity of the activity of the mitochondria has been associated with almost all the chronic diseases that we suffer, including cancer, degenerative diseases such as Alzheimer’s, immune diseases, muscle weakness, deafness, ataxias (motor incoordination), cardiomyopathies, diabetes and genetic diseases. It has even been indicated that there is a direct link between the loss of the functional capacity of the mitochondria and aging ”.
Identifying these problems is essential, especially at an early age. In this sense, López Lluch warns: “In the case of mutations, most of the known ones produce their devastating effects, especially in children. When a baby begins to show symptoms of rare diseases of genetic origin, pediatricians find a very complex picture of symptoms, sometimes unrelated, that do not respond to common pathologies. Therefore, the longer it takes to discover whether these symptoms are due to a genetic problem, the less time there will be to find a solution. “