What We Do
THE EXTINCTION OF MITO,
ONE STOMP AT A TIME...
What are Mitochondria?
In nearly every cell in the body, mitochondria are responsible for producing energy (called ATP). They are like power stations, supplying the energy our cells need to function. They are commonly referred to as the batteries in our cells.
Cells make up tissues and organs in our bodies, for example the heart and liver. If our cells do not have enough energy, the tissues or organs do not work properly. In much the same way, if power stations do not produce enough energy there will be areas of blackout, where parts of the country cannot function.
​​What Is Mitochondrial Disease?
​
When a person has Mitochondrial Disease (often referred to as Mito), the mitochondria in the cells are not producing enough energy. Sometimes they are not very efficient or they do not work at all.
​
There is huge variety in the symptoms and severity of Mitochondrial Disease. It depends on how many cells are affected and where they are in the body.
​
Every person with Mitochondrial Disease is affected differently. Each individual affected will have a different combination of mitochondria that are working and not working within each cell.
However, there are times when particular body systems are affected in a recognisable pattern and these have specific names, for example Alper's disease, Leigh’s disease, MELAS or MERRF. The parts of the body commonly affected are those that have the highest energy demands, such as brain, muscle, liver, heart and kidney. When these systems are effected Mitochondrial Disease is usually progressive.
What is
Alpers Huttenlocher Syndrome?
Alpers Huttenlocher Syndrome or Alpers’ syndrome, Alper's disease, AHS is a mitochondrial disease that is part of a larger group of conditions collectively known as mitochondrial DNA depletion disorders. It is most often caused by mistakes in the DNA of a gene called POLG (pronounced “pawl-gee”) and is part of a spectrum of POLG-related diseases. There are a number of other, extremely rare, genetic causes of Alpers’ syndrome. The three major clinical features associated with Alpers’ syndrome are severe epilepsy, loss of developmental skills (developmental regression) and liver failure.
What are the clinical features of Alpers Huttenlocher Syndrome?
Typically, a young infant develops normally at first and gains weight and skills appropriately. Between 6 and 12 months old seizures begin, which are often very difficult to control with anticonvulsant drugs. Seizures may be generalized, where they involve all four limbs, or focal, where a single limb or one side of the body jerks repeatedly. The jerks are sometimes referred to as ‘myoclonic jerks’. The onset of these seizures is associated with a slowing in development and often there is loss of previously gained skills.
​
The brain and liver are the classic organs affected by this disease due to their high energy demand and the proportional need for mitochondria. Decreased mitochondria in these organ systems lead to various symptoms, with seizures and liver failure being the most common. This pathology is a rapidly progressive disease that presents early in life and invariably ends in a fatality.
There are no treatments for Alpers Huttenlocher Syndrome (other than supportive to relieve symptoms) and there is currently no cure.
​
What causes Alpers Huttenlocher Syndrome?
Alpers Huttenlocher syndrome is most often caused by a genetic mistake in a gene called POLG. This gene provides the instructions needed to make a protein called polymerase gamma, which is responsible for “reading” sequences of mitochondrial DNA (mtDNA) and using them as a template to produce more mtDNA within the mitochondria. If the polymerase gamma doesn’t work properly due to mutations within the POLG gene, this can lead to a reduction in the amount or quality of mtDNA in affected tissues. In Alpers’ syndrome, the faulty polymerase gamma does not make sufficient mtDNA in liver or brain meaning that these organs are depleted of mtDNA. Other, much rarer causes of Alpers syndrome have been reported including genetic mistakes in genes involved in the process of making mitochondrial proteins such as FARS2, NARS2 and PARS2.
How is Alpers Huttenlocher Syndrome inherited?
Alpers’ syndrome is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the faulty gene to develop the condition. Typically, each parent carries one copy of the faulty gene but they do not show signs or symptoms of the condition because they also have a second, normal copy of the POLG gene, which is sufficient to maintain health. There is a 1 in 4 chance of these parents having an affected child who inherits both copies of the faulty gene (one from each parent) and 2 in 4 chance that they carry a faulty gene.
​
How common is Alpers Huttenlocher Syndrome?
​
Approximately 1 in 100,000 children will develop Alpers-Huttenlocher syndrome, however mitochondrial disease in general may impact as many as 1 in 5,000.
​
Mito in General
It is more common than people think, with 1 in 200 people carrying a faulty mitochondrial gene.
Mitochondria power cells. Faults in mitochondria are the root cause of hundreds of other conditions, including cancer, Parkinson’s, dementia, epilepsy and strokes.
​
https://mitochondrialdisease.nhs.uk/
​
Charitable Objectives
1
Fund medical research into
Alpers Huttenlocher Syndrome with the aim of improving clinical management, identifying treatments and finding a cure
2
Raise awareness amongst healthcare professionals and the public through training and events
3
Support affected families by providing information, resources and financial aid where possible
Target
To raise £100,000 in 12 months to fund a 3 year research fellowship (PHD) into Alpers Huttenlocher Syndrome under the guidance of our of charity medical advisor Professor McFarland
We also support...
In addition to our charitable objectives, we also support three other charities that are close to our hearts...
The hospice where
Noah spent his final week
The charity that provided us vital accommodation whilst Noah was critically ill
The charity that provided Noah's care
£429
​​
Would fund a day at the hospice for a child with a life-limiting or life-threatening condition, giving them opportunities for fun and play as well as specialist clinical care.
£250
Would fund a week's stay for a family whose child is critically or terminally ill in hospital
£50
Would fund a selection of specialist toys for infants at the hospital
What Will You Do?
Whether it’s making a donation or organising a fundraising event, there are lots of ways that you can show your support for families affected by Mito.
Visit Shop
Get Involved
