What Causes Alpers' Disease?

Alpers Disease: Causes, Symptoms & Inheritance Pattern

Alpers disease, also known as Alpers syndrome, refers to the loss of key enzymes in mitochondrial DNA. It is a type of autosomal recessive disorder caused by a mutation in the POLG gene.

Before the advancement of next-generation sequencing, diagnosing patients with gene mutations or mitochondrial disease was difficult. The reason being, similarities in symptoms like cardiovascular disorders, neurodegenerative disorders, cancer, obesity and neurometabolic diseases.

What is Alpers disease?

The rare genetic disorder of Alpers disease causes health conditions like seizures, liver failure and dementia. Scientists believe this type of disorder happens because of the mitochondria’s abnormality. Only 1 in a million suffers from Alpers disease.  

Mitochondria are the powerhouses of a cell that generate around 90% of the energy a human body needs to function. When mitochondria are unable to function properly, it causes muscular and neurological damage. Children within the age range of 2 to 4 or 17 to 24 are more prone to such conditions.

What are the symptoms of Alpers disease?

The following are some significant symptoms of early Alpers disease:

1. Seizures or refractory epilepsy
2. Gradual onset of cognitive impairment
3. Liver disease
4. Brain disease
5. Low blood sugar or hypoglycaemia
6. Migraine or headache
7. Muscle stiffness and twitching
8. Depression and anxiety
    

As Alpers disease progresses, a new set of symptoms occurs, which are as follows:

1. Dementia
2. Gastrointestinal disease
3. Dysphagia, or difficulty swallowing
4. Blindness
5. Ataxia, or difficulty in movements
6. Liver cirrhosis or failure
7. Progressive ataxia and spasticityor loss of limb control
    

What are the Causes of Alpers Disease?

A mutation in genetics is the central cause of Alpers disease. If there is a mutation in the POLG1 gene, it can lead to Alpers disease. POLG1 is responsible for encoding the mitochondrial DNA polymerase, which replicates the genome.

When there is a mutation, POLG faces depletion and causes mitochondrial disorders like Alpers disease. Researchers have found that there are ~1% of people in the Europe with the POLG mutation. Both parents can pass these mutations to their children.

How is Alpers Disease Diagnosed?

The main symptoms of dementia or seizure indicate to healthcare providers the possibility of Alpers disease. Then, they conduct tests like electroencephalography (EEG), cerebrospinal fluid analysis, genetic testing and MRIs to confirm.

How Is Alpers Disease Treated?

As of now, there is no permanent treatment for Alpers disease. However, some therapies and medications help manage the symptoms. They are as follows:

1. Muscle massage to decrease stress
2. Anticonvulsant medications that help with the seizure episodes
3. Feeding tubes for patients who are struggling with swallowing or eating
4. Muscle relaxants or pain relievers
5. Speech therapy
6. Occupational therapy teaches patients how to perform daily routine tasks.
    

Alper's disease starts with one or two symptoms. However, it worsens over time. Plus, it has a poor mortality rate. Therefore, monitoring the symptoms and being in contact with a professional health expert at all times is necessary. Children with Alpers disease often suffer from nutritional and gastrointestinal issues and psychological issues. The parents need to keep an eye on these issues and appoint palliative care whenever needed.

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