disease in focus
The more we are able to understand mitochondrial diseases, the better equipped we are to develop transformative medicines for patients living with these rare diseases.
what are mitochondria?
Within all cells of the human body, mitochondria act as a powerhouse – collectively producing energy that is essential for life. When these mitochondria are defective, the result can take the form of a wide range of serious and debilitating illnesses.
what is mitochondrial disease
Mitochondrial disease occurs when mitochondria, found within all cells of the human body and responsible for producing the energy necessary for life, are defective. This can result in a wide range of serious and debilitating illnesses, signs and symptoms of which can include: cognitive problems, learning disabilities, blindness, deafness, heart failure, diabetes, fatigue, intolerance to exercise, muscle weakness and gait problems, and stunted growth. Orphan diseases of the oxidative phosphorylation system like Leigh disease, MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) spectrum disorders, MIDD (maternally inherited diabetes and deafness), LHON (Leber’s hereditary optic neuropathy) and other respiratory chain/ oxidative phosphorylation disorders, are all examples of mitochondrial disease.
understanding mitochondrial disease
Mitochondrial diseases are complex rare diseases, often overlooked or misdiagnosed because of the wide range and varying severity of symptoms. This part of our website, which we will continue to develop, aims to explain some of the specific mitochondrial syndromes and the symptoms that can cause a significant burden for those living with mitochondrial disease.
Cognition and mitochondrial disease
Cognition is an important function of the brain so we can gain knowledge and understanding. These mental processes include thinking, knowing, remembering, judging, planning, understanding and responding to information and problem-solving. They are vital for our everyday functions – whether that’s getting ready for work, remembering where we left our house keys, reminiscing about times from our past or planning a holiday in the future.
Classic MELAS syndrome (Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes), MIDD (maternally inherited diabetes mellitus and deafness) and Mixed Phenotypes all belong to a clinical spectrum of mitochondrial diseases most frequently caused by a mutation, the m.3243A>G mutation, in the MT-TL1 gene in the mitochondrial DNA (mtDNA). Most DNA, called nuclear DNA, is situated in chromosomes within the nucleus of a cell. Mitochondria however, which are found within all cells of the human body, except red blood cells, and are responsible for producing energy necessary for life, also contain small copies of their own DNA known as mitochondrial DNA. In this first of a series of forthcoming mitochondrial disease spotlights we focus on classic MELAS syndrome.