Mitochondria is a special stick structure (cell organelle) found in most living cells. Depending on its specific function, the cell may contain as few as 5 mitochondria, or up to 2,000 these organelles. As they convert oxygen and nutrients to ATP (adenosine triphosphate), a chemical energy that provides a matrix for various metabolic processes within the cell, they are often referred to as "power plants" for cells I will. Only mitochondria can perform this function and when mitochondrial dysfunction occurs normal cellular activity is destroyed.
As with other organelles, mitochondrial dysfunction can cause mitochondrial disease. As an important organelle in the metabolic system, even minor disorders of mitochondrial function can be detrimental to the cell. Mitochondrial dysfunction occurs when mitochondrial DNA (mtDNA) is mutated. In addition to mutation, mitochondrial disease can also be acquired genetically. When mitochondrial disease occurs the most affected cells are muscle cells and brain cells. These cells require a lot of energy to induce their activity
Damage in mitochondria and subsequent dysfunction is an important factor in a series of human diseases due to their effect on cellular metabolism. Mitochondrial disease usually manifests as a neurological disorder including autism. They may also manifest as myopathies, diabetes, multiple endocrine diseases and a variety of other systemic diseases. Diseases caused by mutations in mitochondrial DNA include Kearns-Sayre syndrome, MELAS syndrome, and Leber hereditary optic neuropathy. In most cases, fertilized eggs acquire mitochondria from eggs and produce mtDNA, so these diseases are transmitted to women by women. Kearns-Sayre syndrome, Pearson's syndrome, progressive external ophthalmoplegia are thought to be due to large-scale mtDNA rearrangement. Red fiber (MERRF), due to point mutation of mtDNA
Kearns-Sayre Syndrome - (KSS) is a disease caused by the deletion of 5,000 bases of mitochondrial DNA. Kearnes-Sayre syndrome develops before age 20 years. As it may be heterogeneous, it is a rare inherited disorder, that is, there is the possibility that multiple genomes may be present in the cell at any time. Unlike most mitochondrial diseases, there is no maternal inheritance. Instead, it happens occasionally. Kennedy's disease - (KD) or X-linked spinal cord and ocular muscular atrophy (SBMA) are neuromuscular diseases associated with androgen receptor (AR) mutation. Because of its endocrine symptoms associated with AR injury, it can be thought of as a variant of androgen insensitive syndrome (AIS) disease. It was named after WR Kennedy, the first neurologist to describe the illness.