Treatment of mitochondrial diseases, clinical manifestations of mitochondrial diseases.

There are currently no special effects**. Adenosine triphosphate (ATP), coenzyme Q10, and plenty of B vitamins may be given, and a high-protein, high-carbohydrate, and low-fat diet is recommended for patients with pyruvate carboxylase deficiency. Some cases respond well to adrenocorticotropic hormones.

Hello, for mitochondrial diseases, there is currently no particularly effective ** measure. Generally, coenzyme Q10 can be used, intramuscularly or orally.

High doses of B vitamins such as vitamin B, vitamin B2, vitamin B6, etc., can improve symptoms. Energy preparations, such as adenosine triphosphate (ATP), coenzyme A, etc.

Mitochondrial dysfunction syndrome gene decoding guide: Mitochondrial diseases mainly refer to a class of diseases caused by mitochondrial gene mutations, and their transmission and expression are completely different from those caused by nuclear gene mutations, which is a unique genetic disease. Mitochondrial gene mutations cause structural changes, abnormal oxidative phosphorylation, and impaired energy metabolism.

About mitochondrial disease gene decoding will take you to understand.

What are mitochondria?

Mitochondrial dysfunction syndrome is a disease in which the mitochondrial structure of cells is damaged, as a place for the final oxidation and release of energy from sugars, fats, and amino acids, the main function of mitochondria is to carry out oxidative phosphorylation, synthesize ATP, and provide energy for life activities. Mitochondrial dysfunction syndrome in newborns is severely affected and the survival rate is extremely low.

Affected infants often have severe brain dysfunction (encephalopathy) that manifests as low muscle tone, seizures, and delayed mental and motor development. Most affected infants have a life-threatening molecule of lactate and hyperglycemia that causes acidosis and hyperglycemia, and some infants with mitochondrial dysfunction syndrome develop high blood pressure.

Gene decoding mitochondrial dysfunction syndrome.

Jiaxue Gene has discovered that gene mutations can cause mitochondrial dysfunction syndrome through gene decoding technology. These genes are involved in the formation of iron-sulfur (Fe-S) cluster molecules or attach to certain proteins that require the attachment of Fe-S clusters to function properly.

These proteins can convert the energy ingested into a form that can be used by the cells. At the same time, iron-sulfur clusters also require another mitochondrial protein to play a supporting role. This protein is involved in the modification of mitochondrial proteins, including pyruvate dehydrogenase complex and -ketoglutarate dehydrogenase complex.

This modification is essential for glycine cleavage.

Prospect of gene decoding: Mitochondria are the "power factory" in the cell, and 80% of the energy required for cell life activities is provided by mitochondria. Mitochondrial morphology plays an important role in maintaining normal physiological metabolism and body development, and if mitochondrial structure and function are abnormal, it will lead to the occurrence of diseases.

In recent years, Jiaxue Gene has been committed to studying mitochondrial gene mutations, respiratory chain defects, mitochondrial membrane changes and other factors, and found that different factors will affect the normal function of the whole cell, thereby changing the lesions, including degenerative diseases, metabolic diseases, genetic diseases, tumors, etc., only through deep gene decoding can we solve the problem of mitochondria and let human health develop.

1) Multisystem coarse hall involvement with muscle weakness and cerebral symptoms as prominent manifestations.

2) Muscle weakness, paralysis or ophthalmoplegia, exercise intolerance.

3) Nervous system involvement, growth retardation, convulsions, etc.

4) Retinitis pigmentosa, cardiac involvement, arrhythmia, or cardiac enlargement.

5) Elevated blood lactate and pyruvate.

6) There may be abnormal renal tubular function and liver involvement.

Overview. Mitochondrial diseases are a group of heterogeneous lesions caused by genetic defects that cause defects in mitochondrial metabolic enzymes, resulting in ATP synthesis disorders and energy insufficiency. Different types of mitochondrial encephalomyopathy have different ages of onset.

Mitochondria are organelles closely related to energy metabolism, and both cell survival (oxidative phosphorylation) and cell death (apoptosis) are related to mitochondrial function, especially the abnormal oxidative phosphorylation of the respiratory chain is associated with many human diseases. According to the location of mitochondrial lesions, it can be divided into:

1.Mitochondrial myopathy.

Mitochondrial lesions predominantly invade skeletal muscle.

2.Mitochondrial encephalomyopathy.

The lesion invades both skeletal muscle and the central nervous system.

**。Mitochondria are organelles that provide energy in cells, and human mtDNA is a 16569bp cyclic double-stranded molecule, divided into light chain and heavy chain, containing 37 genes, mainly encoding respiratory chains and proteins related to energy metabolism. MTDNA deletion or point mutation makes the enzymes or carriers encoding the mitochondrial oxidative metabolism process disordered, and glycogen and fatty acids cannot enter the mitochondria to fully utilize and produce enough ATP, resulting in energy metabolism disorders and complex clinical symptoms.

Clinical presentation. 1.Mitochondrial myopathy usually begins at the age of 20 years and is characterized by extreme intolerance of fatigue by skeletal muscles, fatigue with mild activity, often accompanied by muscle aches and tenderness, and amyotrophy is rare.

It is easy to misdiagnose polymyositis, myasthenia gravis, and progressive muscular dystrophy.

2.Mitochondrial encephalomyopathies include:

1) Chronic progressive extraocular muscle paralysis (CPEO) mostly starts in childhood, the first symptom is ptosis, which slowly progresses to paralysis of all extraocular muscles, ocular movement disorders, symmetrical involvement of bilateral extraocular muscles, and diplopia is uncommon; Some patients have weakness of the pharyngeal and limb muscles.

2) Keams-Sayre syndrome (KSS) begins before the age of 20 years and progresses rapidly, manifesting as a triad: CPEO and retinitis pigmentosa, and heart block. Other neurological abnormalities include cerebellar ataxia, elevated cerebrospinal fluid (CSF) protein, neural hearing loss, and mental retardation.

3) Mitochondrial encephalomyopathy with hyperlactic acidemia and stroke-like seizure (MELAS) syndrome begins before the age of 40 and is more common in childhood. Sudden stroke-like seizures, such as hemiplegia, hemianopia or cortical blindness, recurrent seizures, migraine, and vomiting, are progressively worsening.

4) Myoclonic epilepsy with broken muscle red fiber (MERRF) syndrome mostly occurs in childhood, mainly manifested as myoclonic epilepsy, cerebellar ataxia and proximal limb weakness, etc., and can be accompanied by multiple symmetric lipomas.

Examine. a) Laboratory tests.

1.Blood biochemistry tests.

1) Blood lactate and pyruvate minimum exercise test: about 80% of patients still cannot return to normal 10 minutes after exercise, which is positive; Patients with mitochondrial encephalomyopathy also had increased lactate content in CSF;

2) Mitochondria.

Mitochondrial diseases are some of the diseases that are caused due to the improper functioning of the mitochondria. Mitochondria are the organelles that produce energy in cells, mitochondria are present in every cell in the body, and the main function of mitochondria is to provide the energy needed by cells, adenosine triphosphate. Mitochondrial diseases are often caused by mutations in mitochondrial DNA, and mitochondrial diseases in the broad sense also include dysfunction caused by mutations in mitochondrial proteins encoded by the nucleus, these diseases are often hereditary, but because mitochondria play a key role within the cell, these diseases are often fatal. "

Genes in the mitochondria are mutated.

To put it simply, polg1 is a gene in the nucleus of a cell that makes a protein. This protein is a specialized DNA polymerase in mitochondria. Because of the mutation, if this protein does not work properly, the mitochondrial DNA cannot be replicated, so the amount of mitochondria in a cell will be relatively small, and the respiration will be weak.

Mitochondrial diseases of varying severity, mainly affecting the brain, heart and muscles. Depending on which cells are affected in the body, symptoms may include: slow growth, loss of muscle coordination, muscle weakness, problems with vision or hearing, developmental delays, learning disabilities, mental retardation, heart, liver or kidney disease, gastrointestinal disorders, severe constipation, respiratory diseases, diabetes, increased risk of infection, neurological problems, seizures, thyroid dysfunction, dementia and many more.

In school, children with mitochondrial disorders often seem to have no end in their work, become lethargic, and find it difficult to concentrate. This is something that must be understood. It ranges from intermittent difficulties with thinking, memory, movement, and functioning, to severe disability disorders.

Some may experience fatigue, muscle weakness, and diabetes, among other things.

Mitochondrial diseases are diseases that are caused by the malfunction of the mitochondria. Mitochondria are organelles within cells that produce energy. It is found in every cell in the human body except red blood cells.

The main function of mitochondria is to provide the energy needed by the cell - nucleotide triphosphate (ATP). Mitochondrial diseases are often caused by mutations in mitochondrial DNA that affect mitochondrial function. Generalized mitochondrial diseases also include dysfunction caused by mutations in mitochondrial proteins encoded by the nucleus.

These disorders are often hereditary. And because mitochondria play a key role in cells, these diseases are often fatal. The symptoms of neuromuscular diseases are often referred to as mitochondrial myopathy.