Saturday, September 17, 2011

Information on what it actually is and means

Firstly :

What are mitochondria?


Mitochondria (plural for mitochondrion) are sometimes described as cellular “power plants” because among other things, mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. In addition to making energy, mitochondria are also deeply involved in a variety of other activities, such as making steroid hormones and manufacturing the building blocks of DNA


Symptoms of a mitochondrial disease?


Given the fact that mitochondria are responsible for fueling nearly all of the body’s energy needs, there is a long list of symptoms depending on which organ or tissue is having the “energy crisis.”
  • poor growth (failure to thrive)
  • muscle weakness, poor coordination
  • sensory (vision, hearing) problems
  • reduced mental functions
  • disease of the organ (heart, liver)
  • dementia
  • respiratory problems
  • hypoglycemia
  • apnea
  • lactic acidosis
  • seizures
  • gastro-intestinal disorders and swallowing difficulties
  • developmental delays
  • movement disorders (dystonia, muscle spasms, tremors, chorea)
  • stroke
  • diabetes
  • brain atrophy


What is Alpers
( Stella has been diagnosed with POLG , as she doesn’t have one of the mutant genes that it takes it make up Alpers, but she has 2 out of 3 )


Alpers’ Syndrome is a disease of the brain and liver. There are 3 classical symptoms of Alpers’ Syndrome. These are: 1) seizures that are very difficult to treat and have a focal component, 2) episodic psychomotor regression or dementia (loss of developmental milestones, often associated with common childhood infections),
3) liver disease. The children are born and develop normally for a period of time in virtually every case. Symptoms begin between the first few weeks of life and about 25 years of age. Two-thirds of the cases begin to show symptoms of seizures, or episodic loss of developmental milestones, within the first 2 years of life. The liver disease is often subclinical in the early stages of disease, but can appear at any time as acute liver failure.


Alpers’ Syndrome is a recessive genetic disease with a frequency of about 1:250,000 live births. Many cases die before an accurate diagnosis is made, so the true frequency is still an estimate. Alpers is caused by inheriting two copies of the POLG gene that are dysfunctional. These are called mutant copies. The function of the POLG gene is to copy mitochondrial DNA. In Alpers’ Syndrome, POLG is defective, so after a period of time, the amount of mitochondrial DNA in the cell falls below a critical threshold of about 35% of normal. When this happens, the mitochondria become sick, and begin to misfire. This leads to the brain and liver disease of classical Alpers’ Syndrome

How is a mitochondrial disease inherited?


The types of mitochondrial disease inheritance include:
  • Nuclear DNA (DNA contained in the nucleus of the cell) inheritance. Also called autosomal inheritance.
— If this gene trait is recessive (one gene from each parent), often no other family members appear to be affected. There is a 25 percent chance of the trait occurring in other siblings.
— If this gene trait is dominant (a gene from either parent), the disease often occurs in other family members. There is a 50 percent chance of the trait occurring in other siblings.


  • MtDNA (DNA contained in the mitochondria) inheritance.
— There is a 100 percent chance of the trait occurring in other siblings, since all mitochondria are inherited from the mother, although symptoms might be either more or less severe.

  • Combination of mtDNA and nDNA defects:
— Relationship between nDNA and mtDNA and their correlation in mitochondrial formation is unknown

  • Random occurrences
— Diseases specifically from deletions of large parts of the mitochondrial DNA molecule are usually sporadic without affecting other family members disease


…………………………………………….

How awful for my sweet beautiful darling girl.
I look at her and I don’t believe it. I believe she will be different and she’ll be the “one” who writes this story differently.

The genetics councilor’s term to explain what happened -
“It’s pretty much just really bad luck”
Many couples can be carriers and you would never know as it usually only hits one in four children. So you could easily have 2 children and they’ll both be fine. It was just awfully bad luck that our first born was hit with the two mutant genes from both of us.

1 comment:

  1. I am a Mum who been told "It's pretty much just really bad luck" as well. They tested my daughter for all of these conditions, she doesn't have them, she has something else.
    I'm sending you big hugs and just letting you know you are not alone xoxo

    ReplyDelete