How mitochondrial disease and its incidence

This is an automatically translated article.

Article written by Dr. Ha Thi Lien, Vinmec High Technology Center

Mitochondria are the energy factories for the body. When mitochondria do not function and perform normal functions, they will not provide enough energy for the body's activities, so mitochondrial diseases are syndromes with a long "cumulative" time. long and hereditary. The incidence of mitochondrial disease is about 1 in 5000 people. The problem of diagnosis and treatment for mitochondrial disease is currently still being researched.

1. What is a mitochondrial “energy plant”?

Mitochondria are the energy factories for our body. Each cell has about a few thousand mitochondria. The job of this plant is to carry out cellular respiration to convert substances from absorbed food into an energy source. Mitochondria produce 90% of the energy our bodies need to function. The special thing is that mitochondria have their own DNA system (mtDNA) which is different from the DNA system located in the cell nucleus (individual DNA). Human mtDNA is circular, double-stranded DNA 16.6kb long and encodes for 13 proteins (units involved in the respiratory chain), 2 ribosomal RNAs, and 22 transport RNAs. mtDNA has no introns and, with the exception of the D loop region involved in DNA synthesis and transcription, most mitochondrial genes are coding sequences.

2. What are mitochondrial diseases?

Mitochondrial diseases are chronic, inherited diseases, often inherited syndromes that occur when mitochondria do not produce enough energy for functional activities. The disease can begin to appear soon after birth or can occur at any age.
Mitochondrial disease affects mainly one part of the body but the brain, nerve cells, muscles, kidneys, heart, liver, eyes, ears and pancreas. Mainly the organ systems affected are those that consume a lot of energy. When mitochondria in cells lose their function, the organ does not have enough energy to function, resulting in deterioration and loss of function. Many other diseases can lead to loss of mitochondrial function at a secondary level and influence other diseases such as: Alzheimer's, muscular dystrophy, Lou Gehrig's disease, diabetes and cancer.

3. What is the current prevalence of mitochondrial disease?

It is estimated that the prevalence of mitochondrial disease is about 1/5000 people. Every year between 1000 and 4000 children in the United States are born with mitochondrial disease. Because of the symptoms and multiple organ systems affected, mitochondrial diseases are often misdiagnosed as more common disorders.
Symptoms of mitochondrial disease depend on the type of body cell affected. Affected patients may be moderate to acute and may involve one or more different organs, and may occur at any age. Even if people in the same family have mitochondrial disease, symptoms can vary.
Symptoms that may be related to mitochondrial disease include:
Growth retardation; Muscle weakness, myalgia, decreased muscle tone, intolerance to exertion; Hearing and vision problems; Learning ability, mental retardation; Autism, autistic-like characteristics; Diseases of the heart, liver, kidneys; Digestive diseases, difficult chewing ability...; Diabetes; Nervous problems, epilepsy...; Breathing problems; Memory loss .

As soon as you have the above symptoms, you should immediately go to a medical facility to be examined and treated by a specialist. Vinmec International General Hospital is a high-quality medical facility in Vietnam with a team of highly qualified medical professionals, well-trained, domestic and foreign, and experienced.
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