LHON: Mitochondrial Mutations and More

Mitochondria are small organelles found in eukaryotic cells that respond to aerobic respiration. They are responsible for generating energy from food to "move cells". They contain their own DNA and are regenerated by division. As they are very similar to bacteria, they give their thoughts from bacteria (they are swallowed by eukaryotic ancestors we know today). This idea was later confirmed by further investigations and is now widely accepted. (Alberts et al., 2010a) The gene encoding the mitochondrial component protein is located in two separate genetic systems in two different places.

Mitochondria are the birthplace of cells. They generate energy for all life processes. One in 400 people has a maternal genetic variation in mitochondrial DNA (mtDNA), which is a blueprint of several important mitochondrial components. Mutation of MtDNA causes various diseases such as hearing loss, blindness, diabetes, heart failure, liver failure. People suffering from these diseases usually have both normal mtDNA and damaged mtDNA. Unfortunately, there is no cure

Pathogenic mtDNA mutations often result in some of the classical mitochondrial clinical syndromes (Chinnery and Hudson, 2013). However, the literature describes an increase in the number of multilineage mitochondrial disorders, many of which are not clinically and genetically completely characterized. These include numerous nuclear-encoded mitochondrial diseases caused by mutations in ~ 1500 nuclear genes encoding mitochondrial proteins (Chinnery and Hudson, 2013). In the past phenotypes and genetic diversity made clinical diagnosis very difficult. However, according to the international diagnostic criteria (Wolf and Smeitink, 2002) and the widespread use of molecular genetic techniques, accurate diagnosis is more difficult than before. Therefore, more and more patients are diagnosed with mitochondrial disease and emphasis is placed on the development of therapy.

The extreme genetic, biochemical, and clinical complexity of primary mitochondrial disease results in challenging clinical and research activities in this area. Mitochondrial genes encoding 13 core subunits of the respiratory chain complex and mutations of 22 mitochondrial tRNAs and 2 rRNAs and any remaining coding nuclear genes of about 1500 proteins constituting the mitochondrial proteome Nuclear gene mutations may be caused by mitochondrial dysfunction or illness. These commands can be conveyed by all kinds of inheritance (recessive, dominant, X-linked, and mitochondria) and can be characterized by multiple systems or organ-specific dysfunction occurring anytime in life I can do it. Limited information on this enormous heterogeneity, as well as the natural history of disease and the general lack of a suitable model has so far hindered the development of effective treatments.