Almost every cell in our body contains hundreds of tiny power plants called mitochondria.
According to the endosymbiotic theory, mitochondria evolved from intra-cellular bacteria that entered the developing cell about 1.5 billion years ago and became an integral part of the cell.
Mitochondria use oxygen to convert carbohydrates, free fatty acids and proteins into ATP – a chemical compound that provides energy to almost every event that happens in our cells.
Point mutations and deletions are the two most frequent types of mutations that arise in the mtDNA genome, and are known to occur in certain rare mitochondrial diseases, as well as accumulate with age – partially due to spontaneous errors during mtDNA replication or damage repair.
Mitochondria are responsible for ~90% of the cell’s energy demands; for steroid hormone production (sex hormones and adrenocortical hormones); for proliferation of cells as well as for programed cell death (apoptosis). Life and death are in the “hands” of mitochondria.
Mitochondrial Disease is actually used to describe a group of extremely rare diseases including Alpers disease, Leigh Syndrome, Kearns-Sayre Syndrome, Leber’s Hereditary Optic Neuropathy (LHON), and Pearson Syndrome.
The human body requires huge amounts of ATP to work properly, especially the extremely active organs such as our brain, heart and lungs. Without healthy mitochondria, these organs stop performing and start to fail, creating serious, life-threatening and wide-ranging consequences. Mitochondrial diseases, therefore, occur when genetic mutations in either our nuclear DNA or mitochondrial DNA* prevent the mitochondria from producing the required amounts of energy.
*There are two types of DNA in our bodies. Nuclear DNA (usually called ‘DNA’) is inherited from both our mother and father, and makes up 99.9% of the DNA in our bodies. Our nuclear DNA contains over 20,000 genes and is responsible for determining all the unique characteristics that make us who we are. Mitochondrial DNA (mtDNA), meanwhile, is only passed down from mother to child and contains only 37 genes.
Currently, rare Mitochondrial Diseases are incurable and only supportive treatments, which include certain vitamins to support mitochondrial function, are suggested to patients.
While there is still a long way to go on this journey, new hope is on the horizon and here at Minovia, we are researching and studying different ways to understand the possible mechanism of actions and the underlying biology of these diseases.
MAT is the result of our relentless pursuit of answers and, excitingly, we have already seen some success in reversing some of the main symptoms of mitochondrial disease during initial clinical trials.
The more we learn about mitochondrial disease, the closer we get to one day achieving important breakthroughs, with the hope of saving lives.
IND Approved: Phase I/II Clinical trial for Pearson Syndrome. Trial initiated.
Eight submitted patent applications (4 PCT’s) covering composition, methods and uses