Mitochondrial Depletion Syndrome: The Deadly Condition That Attacked Charlie Gard

Remember Charlie Gard, a baby boy with rare mitochondrial depletion syndrome? As a result of his illness, Charlie could not live without the help of medical equipment. The bad news is that the hospital has just decided to immediately remove Charlie Gard’s life support medical device, arguing that it has delayed Charlie’s death. What exactly is mitochondrial depletion syndrome? Indeed not many people know because this disease is very rare. In fact, medical information is very limited and the disease is also no cure.

In medicine, mitochondrial depletion syndrome is an extremely rare genetic condition. The disease attacks and causes brain tissues to rapidly and significantly lack mitochondrial DNA. The DNA is inside mitochondrial cells, organelles that can be found in almost every cell and have the function of respiration or respiratory and energy production. As a result, the disease causes progressively weakened muscles and damage to the brain. The condition causes sufferers to lack the energy to transfer to the muscles, kidneys, and brain. This syndrome is almost always fatal in both infants and children, although there are also some sufferers who can survive into adolescence.

Mitochondrial depletion syndrome is caused by a genetic mutation and symptoms begin to occur before the baby turns 1 year old. This also happened to Charlie, who was born on August 4, 2016. He was born in good health with a normal weight as well. However, just 1 month after birth, his parents realized that Charlie was not like a baby his age. He had difficulty lifting his head and could not sustain himself. In addition, Charlie’s weight also continues to shrink, he also can not cry or hear. After undergoing a detailed and in-depth examination, doctors finally diagnosed Charlie with mytochondrial depletion syndrome. This genetic disease is passed down through the genes of both parents. The team of doctors is also very careful to diagnose this. Charlie is one of only 16 people in the world to have experienced this rare condition.

In addition to muscle weakness and brain damage, mitochondrial depletion syndrome also has other symptoms such as a very slow way of thinking, reduced body movement, damage to hearing devices, and seizures. These symptoms are also followed by problems with blood glucose levels, persistent vomiting, and no development in infants aged 1 year.

Although there is no cure, there are several treatments that can reduce the symptoms. One of them is nucleoside bypass therapy. Experts say, theoretically this therapy could help re-synthesize mytochondrial DNA by providing natural compounds that can not be produced by the patient’s body. However, in Charlie’s case, doctors and experts are not sure the therapy can work, because Charlie’s condition is very severe.

Knowing the Causes of Mitochondrial Disease

Mitochondria are the “energy factories” of the human body. Several thousand mitochondria can be found in almost every cell. Mitochondria also play some fundamental role in the body, such as converting chemicals from the food we eat into energy as well as processing oxygen. Mitochondria produce 90 percent of the energy the human body needs to function properly. The purpose of the following article is to describe an overview of mitochondrial disease and well-being.

What is Mitochondrial Disease?

Mitochondrial disease is characterized as a chronic, genetic, and often inherited health problem that eventually occurs when mitochondria fail to produce enough energy for the human body to function properly. Mitochondrial diseases can develop from birth but they can often develop at any age. Mitochondrial disease can affect every region of the human body, including brain cells, muscles, heart, liver, kidneys, pancreas, eyes, ears, and nerves, among other structures.

When mitochondria do not function properly due to other health problems, mitochondrial dysfunction occurs. In addition, many health problems can cause secondary dysfunction and result in other neurological diseases, such as Alzheimer’s disease, Lou Gehrig’s disease, and muscular dystrophy. People with secondary dysfunction do not have genetic mitochondrial disease and do not have to worry about the continued development or worsening of symptoms.

What are the symptoms of mitochondrial disease?

Symptoms of mitochondrial disease depend on which cells of the human body are affected. Symptoms can occur at any age, involve one or more organs, and can range from mild to severe. Even patients in the same household, having the exact same mitochondrial disease can have gaps in symptoms, severity, and age of onset or beginning of symptoms.

Symptoms of mitochondrial disease may include:

  • Poor growth
  • Muscle pain, muscle weakness, exercise intolerance, low muscle tone
  • Vision and/or hearing problems
  • Learning disabilities, developmental delays, mental retardation
  • Autism, a feature similar to autism
  • Heart, liver or kidney disease
  • Indigestion, difficulty swallowing, constipation or diarrhea, vomiting, cramps, acid reflux
  • Diabetes
  • Increased risk of infection
  • Neurological problems, seizures, migraines, stroke
  • Motion disorders
  • Thyroid problems
  • Respiratory problems
  • Lactic acidosis or lactate buildup
  • Dementia

What Causes Mitochondrial Disease?

In many people, primary mitochondrial disease is a genetic health problem that can be inherited in several ways. To understand these types of inheritance, it would be helpful to know more about genes and DNA. Genes are substances that give us our properties, such as brown eyes or blue eyes. Genes contain DNA, which is a “blueprint” that gives everyone their typical makeup.

Under normal circumstances, a child inherits one gene from the father and one gene from the mother. A child with mitochondrial disease does not receive a pair of genes from his parents. Genes have mutated or become deformed. Studying how inherited mitochondrial disease helps predict the prospect of disease transmission to children.

Types of inherited mitochondrial diseases are:

  • Autosomal recessive inheritance: The child receives one copy of the mutated gene from each parent. There is a 25 percent chance that every child in the family will inherit mitochondrial disease.
  • Autosomal dominant inheritance: The child receives a copy of the mutated gene from one of the parents. There is a 50 percent chance that every child in the family will inherit mitochondrial disease.
  • Mitochondrial inheritance: In this unique type of inheritance, mitochondria contain their own DNA. Only mitochondrial disorders caused by mutations in mitochondrial DNA are inherited exclusively from the mother. There is a 100 percent chance that every child in the family will inherit mitochondrial disease.
  • Random mutations: Sometimes, genes develop their own mutations that are not inherited from parents.

How Is Mitochondrial Disease Diagnosed?

Mitochondrial disease can be difficult to diagnose by a health professional because mitochondrial disease can eventually affect various organs and tissues in the human body and patients can also have a variety of symptoms. There is currently no single laboratory test or diagnostic test that can confirm the identification of mitochondrial disease. That is why referrals to medical facilities with health professionals who focus on the disease are essential for making a diagnosis.

Diagnosis begins with a series of evaluations and tests that may include:

  • Reviews of a patient’s family history
  • Complete physical evaluation
  • Neurological evaluation
  • Metabolic evaluations that include blood and urine tests, and, if necessary, brain spinal fluid tests

Other evaluations, determined by areas of the human body and symptoms of patients that may include:

  • Magnetic resonance imaging (MRI) or spectroscopy (MRS) for neurological symptoms
  • Retinal or electroretinogram (ERG) exam for vision symptoms
  • Electrocardiogram (ECG) or echocardiogram for symptoms of heart disease
  • Audiogram or auditory-brainstem evoke response (ABER) for auditory symptoms
  • Blood tests to detect thyroid dysfunction if the patient has thyroid problems
  • Blood test to perform genetic DNA test

Testing can include biochemical testing. Biopsies of skin and muscle tissue can also be used for diagnosis.

How Is Mitochondrial Disease Treated?

Unfortunately, there is no cure for mitochondrial disease, however, treatment can help reduce symptoms or slow down the overall decline in well-being. Treatment varies from patient to patient and depends on the severity and mitochondrial disease. There is absolutely no way to predict a patient’s reaction or estimate how that person will be affected in the long run. No two people respond in the same way to the same treatment even if they have the same mitochondrial disease.

Treatments for mitochondrial diseases may include:

  • Vitamins and supplements, including Coenzyme Q10; B-complex vitamins, such as thiamine (B1) and riboflavin (B2), alpha lipoic acid, L-carnitine (Carnitor), Creatine, and L-Arginine.
  • Exercises and physical activity, including endurance exercises and endurance/strength exercises to increase muscle strength. Endurance exercises include walking, running, swimming, dancing, cycling, and more. Resistance/strength training includes exercises such as sit-ups, arm curls, knee extensions, weight lifting and more.
  • Save energy. Don’t try to do too much in no time. Calm down.
  • Other treatments include speech therapy, respiratory therapy, physical therapy, and chiropractic treatments, among others.

Avoid situations that can exacerbate health problems. These include exposure to cold and/or warmth, hunger, sleep deprivation, stressful situations, and alcohol use, smoking and monosodium glutamate or MSG, flavor enhancers commonly added to Chinese food, canned vegetables, soups, as well as processed meats. , among other processed foods.