Mitochondrial DNA depletion syndrome
Mitochondrial DNA Depletion Syndrome
Mitochondrial DNA Depletion Syndrome (MDDS) (pronunciation: mi-toh-kon-dree-al dee-en-ay dee-plee-shun sin-drome) is a group of autosomal recessive disorders characterized by a significant reduction in mitochondrial DNA (mtDNA) in affected tissues.
Etymology
The term "Mitochondrial DNA Depletion Syndrome" is derived from the key features of the condition. "Mitochondrial" refers to the mitochondria, the energy-producing structures within cells. "DNA" stands for deoxyribonucleic acid, the molecule that carries genetic information. "Depletion" refers to the significant reduction in the amount of mtDNA. "Syndrome" is used to describe a collection of symptoms and clinical features that often occur together.
Types
There are several types of MDDS, each named after the affected gene. These include:
- TK2 related MDDS
- RRM2B related MDDS
- POLG related MDDS
- DGUOK related MDDS
- SUCLA2 and SUCLG1 related MDDS
Symptoms
Symptoms of MDDS vary widely depending on the type and severity of the condition. Common symptoms include muscle weakness, neurological problems, gastrointestinal disorders, and lactic acidosis. More severe forms can lead to liver disease, respiratory complications, and early death.
Diagnosis
Diagnosis of MDDS typically involves genetic testing to identify mutations in the genes associated with the condition. Other diagnostic tests may include muscle biopsy, blood tests, and imaging studies.
Treatment
There is currently no cure for MDDS. Treatment is supportive and aims to manage symptoms and improve quality of life. This may include physical therapy, nutritional support, and medications to manage specific symptoms.
Prognosis
The prognosis for individuals with MDDS varies widely and depends on the type and severity of the condition. Some forms of the condition are associated with a shortened lifespan, while others may have a more normal life expectancy with appropriate management.
External links
- Medical encyclopedia article on Mitochondrial DNA depletion syndrome
- Wikipedia's article - Mitochondrial DNA depletion syndrome
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