Kearns Sayre Syndrome

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Kearns-sayre syndrome Kearns-sayre syndrome is when the mitochondria in DNA becomes abnormal, and does not do its proper fucntions.

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A mitochondrion (singular of mitochondria) is part of every cell in the body that contains genetic material. Mitochondria are responsible for processing oxygen and converting substances from the foods we eat into energy for essential cell functions. The mitochondria of the zygote come from the oocyte, that is, from the mother and almost never from the sperm, form of transmission is called maternal inheritance Which mitochondrial gene is mutated. The extent of replicative segregation of the mutant mitochondrial genome during the early stages of embryonic development. The abundance of the mutant mitochondrial gene in a particular tissue. The threshold level of mutant mitochondrial DNA required in a tissue before an abnormality is evident clinically Mitochondrial disease affects tissues most highly dependent on ATP production *Nerves *Muscles Endocrine Kidney Low energy-requiring tissues are rarely directly affected, but may be secondarily Lung Connective tissue Symptoms can be intermittent Increased energy demand (illness, exercise) Decreased energy supply (fasting) Common feature myoclonus epilepsy, deafness, blindness, anemia, diabetes, seizures and loss of cerebral blood supply (stroke). Myoclonic epilepsy and ragged-red fiber disease (MERRF) MERRF is a member of a group of disorders called mitochondrial encephalomyopathies that feature mitochondrial defects with altered brain and muscle functions. The term “ragged red fibers” refers to large clumps of abnormal mitochondria that accumulate mostly in muscle cells and are stained red by a dye that is specific for complex II of the electron transport chain. rare, maternally inherited, heteroplasmic, (point mutation in tRNA lysine gene) Mutation is MTTK*MERRF8344G. MT means mitochondrial gene is mutated T means transfer RNA gene K means the single-letter amino acid designation for lysine MERRF means the clinical features 8344G means the mutant nucleotide is guanine (G) at nucleotide position 8344 If 90% of the mitochondria in nerve and muscle cells carry the MTTK*MERRF8344G mutation, then the defining symptoms of MERRF are present. Maternally inherited mitochondrial disease The MTTL1*MELAS3243G mutation accounts for more than 80% of the cases of MELAS. This base substitution is in one of the two mitochondrial transfer RNALeu genes. the A3243G mutation occurs in thetRNALeu(UUR) gene When this mutation is present in ≥90% of the mitochondrial DNA of muscle tissue, there is an increased likelihood of recurrent strokes, dementia, epilepsy, and ataxia. When heteroplasmy for the A3243G mutation is ~40% to 50%, chronic progressive external ophthalmoplegia (CPEO), myopathy, and deafness are likely to occur. Other MELAS mutations occur at sites 3252, 3271, and 3291 within the tRNALeu(UUR) gene and in the mitochondrial tRNAVal (MTTV) and COX III (MTCO3) genes. Reduced activities in Complexes I and IV are established

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