Mitochondrial disease

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Mitochondrial disease
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Muscle weakness, neurological problems, cardiomyopathy, lactic acidosis
Complications	N/A
Onset	Varies (often in childhood)
Duration	Chronic
Types	N/A
Causes	Genetic mutations affecting mitochondria
Risks	Family history of mitochondrial disease
Diagnosis	Genetic testing, muscle biopsy, metabolic testing
Differential diagnosis	Muscular dystrophy, multiple sclerosis, myasthenia gravis
Prevention	N/A
Treatment	Supportive care, physical therapy, vitamin supplements
Medication	N/A
Prognosis	Varies widely
Frequency	Estimated 1 in 5,000
Deaths	N/A

Mitochondrial disease refers to a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell. These diseases can affect multiple organs and systems in the body, leading to a wide range of symptoms and varying degrees of severity.

Introduction

Mitochondria are responsible for producing adenosine triphosphate (ATP), the primary energy currency of the cell, through a process known as oxidative phosphorylation. When mitochondria fail to function correctly, cells do not have enough energy to perform their normal functions, leading to mitochondrial disease.

Causes

Mitochondrial diseases can be caused by mutations in either the nuclear DNA or the mitochondrial DNA (mtDNA). These mutations can be inherited from one or both parents or can occur spontaneously. The inheritance patterns can be autosomal dominant, autosomal recessive, or maternal inheritance.

Symptoms

The symptoms of mitochondrial disease can vary widely depending on which cells of the body are affected. Common symptoms include:

• Muscle weakness
• Neurological disorders
• Cardiomyopathy
• Liver disease
• Diabetes mellitus
• Hearing loss
• Vision problems

Diagnosis

Diagnosing mitochondrial disease can be challenging due to the variability in symptoms and the overlap with other conditions. Diagnostic methods may include:

• Genetic testing
• Muscle biopsy
• Blood tests
• Magnetic resonance imaging (MRI)
• Magnetic resonance spectroscopy (MRS)

Treatment

There is currently no cure for mitochondrial disease, and treatment focuses on managing symptoms and improving quality of life. Treatment options may include:

• Vitamin and cofactor supplements
• Physical therapy
• Occupational therapy
• Speech therapy
• Medications to manage specific symptoms

Prognosis

The prognosis for individuals with mitochondrial disease varies widely depending on the specific disorder and the severity of symptoms. Some individuals may have mild symptoms and a normal lifespan, while others may experience severe symptoms and a reduced lifespan.

Research

Ongoing research aims to better understand the underlying mechanisms of mitochondrial disease and to develop new treatments. Areas of research include gene therapy, stem cell therapy, and the development of new drugs to improve mitochondrial function.

See also

• Mitochondrial DNA
• Oxidative phosphorylation
• Genetic disorder
• Inherited metabolic disorder

External links

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