How old do people with mitochondrial disease live?

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How old do people with mitochondrial disease live?

A small study in children with mitochondrial disease examined the patient records of 221 children with mitochondrial disease. Of these, 14% died three to nine years after diagnosis. Five patients lived less than three years, and three patients lived longer than nine years.

What does the POLG gene do?

The POLG gene encodes the mitochondrial DNA polymerase that is responsible for replication of the mitochondrial genome. Mutations in POLG can cause early childhood mitochondrial DNA (mtDNA) depletion syndromes or later-onset syndromes arising from mtDNA deletions.

What causes POLG disease?

It is an autosomal recessive disease caused by mutation in the gene for the mitochondrial DNA polymerase POLG.

What is mitochondrial DNA depletion syndrome?

Abstract. Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically heterogeneous group of autosomal recessive disorders that are characterized by a severe reduction in mtDNA content leading to impaired energy production in affected tissues and organs.

Is mitochondrial disease always fatal?

Without the right amount of energy, our cell’s cannot do their job and they stop performing and start to die. If a lot of Mitochondria in the body are affected, especially in important body organs, mitochondrial disease can be very serious and often fatal.

What are three of the most common symptoms of mitochondrial disease?

The main symptoms of mitochondrial myopathy are muscle fatigue, weakness, and exercise intolerance. The severity of any of these symptoms varies greatly from one person to the next, even in the same family. In some individuals, weakness is most prominent in muscles that control movements of the eyes and eyelids.

Is POLG mutation fatal?

Alpers syndrome appears to be the most common autosomal recessive disease caused by mutations in the POLG gene. This early-onset fatal disease is characterized by intractable seizures, hepatic failure, and global neurological deterioration (Naviaux and Nguyen, 2004).

How common is POLG mutation?

POLG mutations are relatively rare, with an estimated carrier frequency of 1/100 individuals in the Western world [11]. Most are recessive, and symptoms typically manifest only in compound heterozygous patients.

What chromosome is POLG gene?

The POLG gene is located on the long arm of chromosome 15, and encodes polymerase γ. Polymerase γ is the sole polymerase for mitochondrial DNA replication. In Alpers’ disease, mutations in POLG are inherited in an autosomal recessive fashion, typically from parents who are silent carriers.

What are the symptoms of mitochondrial depletion?

Symptoms of mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria may include:

  • Muscle weakness.
  • Difficulty feeding.
  • Inability to sit or hold the head up.
  • Hearing loss.
  • Poor growth (failure to thrive)
  • Difficulty breathing due to muscle weakness.
  • Developmental delay.
  • Cognitive impairment.

What causes mitochondrial DNA depletion?

Causes of Mitochondrial Depletion Syndrome MDS is linked to genetic mutations in several dozen different nuclear genes. These gene mutations can be passed down from parent to child, or develop new (occur de novo) in the early embryo..

Can adults get mitochondrial disease?

Adult-onset mitochondrial disease often presents in more subtle ways. The disease may manifest for the first time in adulthood or may be first recognized in adulthood after a history of symptoms dating back to childhood. Adult-onset mitochondrial disease is typically a progressive multisystem disorder.