This Week is World Mitochondrial Awareness Week!
World Mitochondrial Awareness Week raises awareness about mitochondrial diseases (mito). It aims to improve the lives of people affected by mito and to increase awareness among doctors and the general public.
Mitochondrial myopathies (MM) or mitochondrial diseases is an umbrella term for conditions caused by damage to the mitochondria. Mitochondria are small, energy-producing structures that serve as the cells' ‘power pants’. Nerve cells in the brain and muscles require a great deal of energy and thus appear to be particularly damaged when mitochondrial dysfunction occurs.
MM can affect one part of the body or many parts, including the brain, muscles, kidneys, heart, eyes and ears. Symptoms of these conditions vary because a person can have a unique mixture of healthy and faulty mitochondria, with a unique distribution of each within the body. In most cases, mitochondrial disorders affect more than one type of cell, tissue, or organ. Muscles and nerve cells have especially high energy needs, therefore muscular and neurological problems are common features of mitochondrial conditions.
They are several types of mitochondrial myopathies:
· Kearns-Sayre syndrome (KSS)
· Chronic progressive external ophthalmoplegia (CPEO)
· Neuropathy, ataxia, and retinitis pigmentosa (NARP)
· Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS)
· Myoclonic epilepsy with ragged-red fibres (MERRF)
· Leigh syndrome (also known as MILS – maternally inherited Leigh syndrome)
· Mitochondrial DNA depletion syndromes, including Alpers syndrome.
· Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
The main symptoms of MM are fatigue, weakness and exercise intolerance. Depending on the type of MM, symptoms may include impaired vision, hearing loss, abnormal heartbeat (cardiac arrhythmia), diabetes, developmental delays, learning disabilities, gastrointestinal disorders, and stunted growth.
Mitochondrial myopathy is genetic, meaning it is caused by mutations in our DNA. While most of our DNA is contained within chromosomes in the nucleus of our cells, a very small amount is found within our mitochondria. Mitochondrial function is controlled by both mitochondrial and nuclear DNA; therefore, genetic variation in either can cause mitochondrial disease. We inherit mitochondrial DNA only from our mothers, whereas nuclear DNA comes from both parents. This results in multiple possible inheritance patterns.
Mitochondrial myopathy research news
Abliva AB is a pharmaceutical company developing drugs for the treatment of rare and severe primary mitochondrial conditions. The company has two programmes in development: KL1333, a powerful regulator of the essential co-enzymes NAD⁺ and NADH, has entered late-stage development; NV354, an energy replacement therapy, has completed preclinical development.
Falcon clinical trial (KL1333)
In July, Abliva AB announced interim analysis of 24-week data from their phase 2 FALCON clinical study that showed the main outcomes, fatigue and myopathy, were met successfully. This validated the overall study design and confirmed the strong safety profile of the investigational drug, KL1333. Abliva AB now plan to increase recruitment to 180 patients.
KL1333, has been designed to treat chronic fatigue and myopathy (muscle weakness) in genetically confirmed adult patients with primary mitochondrial disease. Diagnoses can include MELAS-MIDD and KSS-CPEO spectrum disorders as well as MERRF syndrome. The drug candidate is intended for long-term oral treatment. It received orphan drug designation in both the USA and Europe.
NV354: Preclinical development completed
NV354, an energy replacement therapy, has completed preclinical development. This study hopes to increase mitochondrial function in cells from mitochondrial Leigh syndrome patients. The company announced that due to the current prioritization of KL1333, no significant cost-intensive operational activities are planned for NV354 at this time.