際際滷shows by User: amrsaeed7777 / http://www.slideshare.net/images/logo.gif 際際滷shows by User: amrsaeed7777 / Tue, 07 Jul 2020 13:27:30 GMT 際際滷Share feed for 際際滷shows by User: amrsaeed7777 慍惘悋惺悸 悋悋愕悴悸 惆惘悋 悋惺悋 惡惘悋悴 悋惠惘惡悸 /slideshow/ss-236678693/236678693 tissueculture-200707132730
惺 惠惘惡悸 悋惡悋惠 惺 惠惘惡悸 悋惡悋惠 惡忰惓 惠忰愕 悋惶悋惠 悋惘悋惓悸 惡悋惠悋惠 悋惠 悋 悒惠惶悋惆悸 惡悋愕惡悸 悒愕悋 惡惆悖惠 愀惘悸 悋悒惠悽悋惡 慍悋悸 惺 惴惘 惺 悋惘悋惓悸 惆 悖悸 惠惘惡悸 悋惡悋惠: 慍悋惆悸 悒惠悋悴悸 悋忰惶 惘惺 惆惘悴悸 悋惠悖 悖惶悋 悋慍惘悋惺悸 惠悋愕惡 悋愀 悴惆惆悸 惠忰愕 惠忰 悋悖惶悋 悋慍惘悋惺悸 惴惘 悋悒悴悋惆 悋惡悧 悋忰 悋愃惘 忰 惠忰愕 悴惆悸 惠悴悋惠 悋忰悋惶 惠愃惘 愀惡惺悸 悋 悒惠悋悴 悖惶悋 悋悸 悖惘悋惷 悋惠惘惡悸 悋惡惠悴: 惠愕 惠惘惡悸 悋惡悋惠 愆悋愀: 悋惠惺惆 悋悴 惠 悋惡悋惠 悗惆 悋惠忰 惺悸 悋惠忰 悒 惴惘 悖惶悋 悽愀悸 悴惆惆悸 惠惺愀 忰惶 惡愆 悖惷 惠悋惠 慍惘悋惺悸 悋悖愕悴悸 悋 惠悖惓惘 惡惘 悋惠惺悋 惺 悋惠惺 悋悴 忰惓 惠 惡悋惺 惠惺惆 悖惓惘 50 惺 悽惠 惘悋惓悋 悒悋 惡愀惘 惠惺惠惆 惺 悋悋惠 Agrobacterium 悖 悋悋惠 Liposome microinjection Biolistic 忰惓 惺惡惠 惠悋惠 慍惘悋惺悸 悋悖愕悴悸 惆惘悋 惘悧愕悋 惠愀惘 悋惆愕悸 悋惘悋惓悸 悋惡悋惠悸 悽悋惶悸 悋悴悋惠 惡悋悄悸 悒愕惠惺悋惆悸 悋惡悋惠悋惠 悋忰惘悸 惘悋惓悋 ]]>

惺 惠惘惡悸 悋惡悋惠 惺 惠惘惡悸 悋惡悋惠 惡忰惓 惠忰愕 悋惶悋惠 悋惘悋惓悸 惡悋惠悋惠 悋惠 悋 悒惠惶悋惆悸 惡悋愕惡悸 悒愕悋 惡惆悖惠 愀惘悸 悋悒惠悽悋惡 慍悋悸 惺 惴惘 惺 悋惘悋惓悸 惆 悖悸 惠惘惡悸 悋惡悋惠: 慍悋惆悸 悒惠悋悴悸 悋忰惶 惘惺 惆惘悴悸 悋惠悖 悖惶悋 悋慍惘悋惺悸 惠悋愕惡 悋愀 悴惆惆悸 惠忰愕 惠忰 悋悖惶悋 悋慍惘悋惺悸 惴惘 悋悒悴悋惆 悋惡悧 悋忰 悋愃惘 忰 惠忰愕 悴惆悸 惠悴悋惠 悋忰悋惶 惠愃惘 愀惡惺悸 悋 悒惠悋悴 悖惶悋 悋悸 悖惘悋惷 悋惠惘惡悸 悋惡惠悴: 惠愕 惠惘惡悸 悋惡悋惠 愆悋愀: 悋惠惺惆 悋悴 惠 悋惡悋惠 悗惆 悋惠忰 惺悸 悋惠忰 悒 惴惘 悖惶悋 悽愀悸 悴惆惆悸 惠惺愀 忰惶 惡愆 悖惷 惠悋惠 慍惘悋惺悸 悋悖愕悴悸 悋 惠悖惓惘 惡惘 悋惠惺悋 惺 悋惠惺 悋悴 忰惓 惠 惡悋惺 惠惺惆 悖惓惘 50 惺 悽惠 惘悋惓悋 悒悋 惡愀惘 惠惺惠惆 惺 悋悋惠 Agrobacterium 悖 悋悋惠 Liposome microinjection Biolistic 忰惓 惺惡惠 惠悋惠 慍惘悋惺悸 悋悖愕悴悸 惆惘悋 惘悧愕悋 惠愀惘 悋惆愕悸 悋惘悋惓悸 悋惡悋惠悸 悽悋惶悸 悋悴悋惠 惡悋悄悸 悒愕惠惺悋惆悸 悋惡悋惠悋惠 悋忰惘悸 惘悋惓悋 ]]>
Tue, 07 Jul 2020 13:27:30 GMT /slideshow/ss-236678693/236678693 amrsaeed7777@slideshare.net(amrsaeed7777) 慍惘悋惺悸 悋悋愕悴悸 惆惘悋 悋惺悋 惡惘悋悴 悋惠惘惡悸 amrsaeed7777 惺 惠惘惡悸 悋惡悋惠 惺 惠惘惡悸 悋惡悋惠 惡忰惓 惠忰愕 悋惶悋惠 悋惘悋惓悸 惡悋惠悋惠 悋惠 悋 悒惠惶悋惆悸 惡悋愕惡悸 悒愕悋 惡惆悖惠 愀惘悸 悋悒惠悽悋惡 慍悋悸 惺 惴惘 惺 悋惘悋惓悸 惆 悖悸 惠惘惡悸 悋惡悋惠: 慍悋惆悸 悒惠悋悴悸 悋忰惶 惘惺 惆惘悴悸 悋惠悖 悖惶悋 悋慍惘悋惺悸 惠悋愕惡 悋愀 悴惆惆悸 惠忰愕 惠忰 悋悖惶悋 悋慍惘悋惺悸 惴惘 悋悒悴悋惆 悋惡悧 悋忰 悋愃惘 忰 惠忰愕 悴惆悸 惠悴悋惠 悋忰悋惶 惠愃惘 愀惡惺悸 悋 悒惠悋悴 悖惶悋 悋悸 悖惘悋惷 悋惠惘惡悸 悋惡惠悴: 惠愕 惠惘惡悸 悋惡悋惠 愆悋愀: 悋惠惺惆 悋悴 惠 悋惡悋惠 悗惆 悋惠忰 惺悸 悋惠忰 悒 惴惘 悖惶悋 悽愀悸 悴惆惆悸 惠惺愀 忰惶 惡愆 悖惷 惠悋惠 慍惘悋惺悸 悋悖愕悴悸 悋 惠悖惓惘 惡惘 悋惠惺悋 惺 悋惠惺 悋悴 忰惓 惠 惡悋惺 惠惺惆 悖惓惘 50 惺 悽惠 惘悋惓悋 悒悋 惡愀惘 惠惺惠惆 惺 悋悋惠 Agrobacterium 悖 悋悋惠 Liposome microinjection Biolistic 忰惓 惺惡惠 惠悋惠 慍惘悋惺悸 悋悖愕悴悸 惆惘悋 惘悧愕悋 惠愀惘 悋惆愕悸 悋惘悋惓悸 悋惡悋惠悸 悽悋惶悸 悋悴悋惠 惡悋悄悸 悒愕惠惺悋惆悸 悋惡悋惠悋惠 悋忰惘悸 惘悋惓悋 <img style="border:1px solid #C3E6D8;float:right;" alt="" src="https://cdn.slidesharecdn.com/ss_thumbnails/tissueculture-200707132730-thumbnail.jpg?width=120&amp;height=120&amp;fit=bounds" /><br> 惺 惠惘惡悸 悋惡悋惠 惺 惠惘惡悸 悋惡悋惠 惡忰惓 惠忰愕 悋惶悋惠 悋惘悋惓悸 惡悋惠悋惠 悋惠 悋 悒惠惶悋惆悸 惡悋愕惡悸 悒愕悋 惡惆悖惠 愀惘悸 悋悒惠悽悋惡 慍悋悸 惺 惴惘 惺 悋惘悋惓悸 惆 悖悸 惠惘惡悸 悋惡悋惠: 慍悋惆悸 悒惠悋悴悸 悋忰惶 惘惺 惆惘悴悸 悋惠悖 悖惶悋 悋慍惘悋惺悸 惠悋愕惡 悋愀 悴惆惆悸 惠忰愕 惠忰 悋悖惶悋 悋慍惘悋惺悸 惴惘 悋悒悴悋惆 悋惡悧 悋忰 悋愃惘 忰 惠忰愕 悴惆悸 惠悴悋惠 悋忰悋惶 惠愃惘 愀惡惺悸 悋 悒惠悋悴 悖惶悋 悋悸 悖惘悋惷 悋惠惘惡悸 悋惡惠悴: 惠愕 惠惘惡悸 悋惡悋惠 愆悋愀: 悋惠惺惆 悋悴 惠 悋惡悋惠 悗惆 悋惠忰 惺悸 悋惠忰 悒 惴惘 悖惶悋 悽愀悸 悴惆惆悸 惠惺愀 忰惶 惡愆 悖惷 惠悋惠 慍惘悋惺悸 悋悖愕悴悸 悋 惠悖惓惘 惡惘 悋惠惺悋 惺 悋惠惺 悋悴 忰惓 惠 惡悋惺 惠惺惆 悖惓惘 50 惺 悽惠 惘悋惓悋 悒悋 惡愀惘 惠惺惠惆 惺 悋悋惠 Agrobacterium 悖 悋悋惠 Liposome microinjection Biolistic 忰惓 惺惡惠 惠悋惠 慍惘悋惺悸 悋悖愕悴悸 惆惘悋 惘悧愕悋 惠愀惘 悋惆愕悸 悋惘悋惓悸 悋惡悋惠悸 悽悋惶悸 悋悴悋惠 惡悋悄悸 悒愕惠惺悋惆悸 悋惡悋惠悋惠 悋忰惘悸 惘悋惓悋
慍惘悋惺悸 悋悋愕悴悸 惆惘悋 悋惺悋 惡惘悋悴 悋惠惘惡悸 from Amr Saeed
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慍惘悋惺悸 悋悖愕悴悸 惆惘悋 悋惺悋 惡惘悋悴 悋惠惘惡悸 /slideshow/ss-236677966/236677966 tissuecultureastoolsforbreeding-200707130403
惺 惠惘惡悸 悋惡悋惠 惡忰惓 惠忰愕 悋惶悋惠 悋惘悋惓悸 惡悋惠悋惠 悋惠 悋 悒惠惶悋惆悸 惡悋愕惡悸 悒愕悋 .悋惠惘惡悸 悋惡惠悴 惠愕 惠惘惡悸 悋惡悋惠 愆悋愀: 悋惠惺惆 悋悴 惠 悋惡悋惠 悗惆 悋惠忰 惺悸 悋惠忰 悒 惴惘 悖惶悋 悽愀悸 悴惆惆悸 惠惺愀 忰惶 惡愆 悖惷 惠悋惠 慍惘悋惺悸 悋悖愕悴悸 悋 惠悖惓惘 惡惘 悋惠惺悋 惺 悋惠惺 悋悴 忰惓 惠 惡悋惺 惠惺惆 悖惓惘 50 惺 悽惠 惘悋惓悋 悒悋 惡愀惘 惠惺惠惆 惺 悋悋惠 Agrobacterium 悖 悋悋惠 Liposome microinjection Biolistic 忰惓 惺惡惠 惠悋惠 慍惘悋惺悸 悋悖愕悴悸 惆惘悋 惘悧愕悋 惠愀惘 悋惆愕悸 悋惘悋惓悸 悋惡悋惠悸 悽悋惶悸 悋悴悋惠 惡悋悄悸 悒愕惠惺悋惆悸 悋惡悋惠悋惠 悋忰惘悸 惘悋惓悋 悋惠悴悋 悋忰悸 悋惡悋惠悸: 惠 悋 悋惠惺惆 悋惘悋惓 悽悸 悋惡悋惠悸 惺 愀惘 悒惆悽悋 悴慍悄 惺 悋忰惷 悋 (悋惶悸 悋惘愃惡悸) 惶惆惘 悽惠 惘悋惓悋 ]]>

惺 惠惘惡悸 悋惡悋惠 惡忰惓 惠忰愕 悋惶悋惠 悋惘悋惓悸 惡悋惠悋惠 悋惠 悋 悒惠惶悋惆悸 惡悋愕惡悸 悒愕悋 .悋惠惘惡悸 悋惡惠悴 惠愕 惠惘惡悸 悋惡悋惠 愆悋愀: 悋惠惺惆 悋悴 惠 悋惡悋惠 悗惆 悋惠忰 惺悸 悋惠忰 悒 惴惘 悖惶悋 悽愀悸 悴惆惆悸 惠惺愀 忰惶 惡愆 悖惷 惠悋惠 慍惘悋惺悸 悋悖愕悴悸 悋 惠悖惓惘 惡惘 悋惠惺悋 惺 悋惠惺 悋悴 忰惓 惠 惡悋惺 惠惺惆 悖惓惘 50 惺 悽惠 惘悋惓悋 悒悋 惡愀惘 惠惺惠惆 惺 悋悋惠 Agrobacterium 悖 悋悋惠 Liposome microinjection Biolistic 忰惓 惺惡惠 惠悋惠 慍惘悋惺悸 悋悖愕悴悸 惆惘悋 惘悧愕悋 惠愀惘 悋惆愕悸 悋惘悋惓悸 悋惡悋惠悸 悽悋惶悸 悋悴悋惠 惡悋悄悸 悒愕惠惺悋惆悸 悋惡悋惠悋惠 悋忰惘悸 惘悋惓悋 悋惠悴悋 悋忰悸 悋惡悋惠悸: 惠 悋 悋惠惺惆 悋惘悋惓 悽悸 悋惡悋惠悸 惺 愀惘 悒惆悽悋 悴慍悄 惺 悋忰惷 悋 (悋惶悸 悋惘愃惡悸) 惶惆惘 悽惠 惘悋惓悋 ]]>
Tue, 07 Jul 2020 13:04:02 GMT /slideshow/ss-236677966/236677966 amrsaeed7777@slideshare.net(amrsaeed7777) 慍惘悋惺悸 悋悖愕悴悸 惆惘悋 悋惺悋 惡惘悋悴 悋惠惘惡悸 amrsaeed7777 惺 惠惘惡悸 悋惡悋惠 惡忰惓 惠忰愕 悋惶悋惠 悋惘悋惓悸 惡悋惠悋惠 悋惠 悋 悒惠惶悋惆悸 惡悋愕惡悸 悒愕悋 .悋惠惘惡悸 悋惡惠悴 惠愕 惠惘惡悸 悋惡悋惠 愆悋愀: 悋惠惺惆 悋悴 惠 悋惡悋惠 悗惆 悋惠忰 惺悸 悋惠忰 悒 惴惘 悖惶悋 悽愀悸 悴惆惆悸 惠惺愀 忰惶 惡愆 悖惷 惠悋惠 慍惘悋惺悸 悋悖愕悴悸 悋 惠悖惓惘 惡惘 悋惠惺悋 惺 悋惠惺 悋悴 忰惓 惠 惡悋惺 惠惺惆 悖惓惘 50 惺 悽惠 惘悋惓悋 悒悋 惡愀惘 惠惺惠惆 惺 悋悋惠 Agrobacterium 悖 悋悋惠 Liposome microinjection Biolistic 忰惓 惺惡惠 惠悋惠 慍惘悋惺悸 悋悖愕悴悸 惆惘悋 惘悧愕悋 惠愀惘 悋惆愕悸 悋惘悋惓悸 悋惡悋惠悸 悽悋惶悸 悋悴悋惠 惡悋悄悸 悒愕惠惺悋惆悸 悋惡悋惠悋惠 悋忰惘悸 惘悋惓悋 悋惠悴悋 悋忰悸 悋惡悋惠悸: 惠 悋 悋惠惺惆 悋惘悋惓 悽悸 悋惡悋惠悸 惺 愀惘 悒惆悽悋 悴慍悄 惺 悋忰惷 悋 (悋惶悸 悋惘愃惡悸) 惶惆惘 悽惠 惘悋惓悋 <img style="border:1px solid #C3E6D8;float:right;" alt="" src="https://cdn.slidesharecdn.com/ss_thumbnails/tissuecultureastoolsforbreeding-200707130403-thumbnail.jpg?width=120&amp;height=120&amp;fit=bounds" /><br> 惺 惠惘惡悸 悋惡悋惠 惡忰惓 惠忰愕 悋惶悋惠 悋惘悋惓悸 惡悋惠悋惠 悋惠 悋 悒惠惶悋惆悸 惡悋愕惡悸 悒愕悋 .悋惠惘惡悸 悋惡惠悴 惠愕 惠惘惡悸 悋惡悋惠 愆悋愀: 悋惠惺惆 悋悴 惠 悋惡悋惠 悗惆 悋惠忰 惺悸 悋惠忰 悒 惴惘 悖惶悋 悽愀悸 悴惆惆悸 惠惺愀 忰惶 惡愆 悖惷 惠悋惠 慍惘悋惺悸 悋悖愕悴悸 悋 惠悖惓惘 惡惘 悋惠惺悋 惺 悋惠惺 悋悴 忰惓 惠 惡悋惺 惠惺惆 悖惓惘 50 惺 悽惠 惘悋惓悋 悒悋 惡愀惘 惠惺惠惆 惺 悋悋惠 Agrobacterium 悖 悋悋惠 Liposome microinjection Biolistic 忰惓 惺惡惠 惠悋惠 慍惘悋惺悸 悋悖愕悴悸 惆惘悋 惘悧愕悋 惠愀惘 悋惆愕悸 悋惘悋惓悸 悋惡悋惠悸 悽悋惶悸 悋悴悋惠 惡悋悄悸 悒愕惠惺悋惆悸 悋惡悋惠悋惠 悋忰惘悸 惘悋惓悋 悋惠悴悋 悋忰悸 悋惡悋惠悸: 惠 悋 悋惠惺惆 悋惘悋惓 悽悸 悋惡悋惠悸 惺 愀惘 悒惆悽悋 悴慍悄 惺 悋忰惷 悋 (悋惶悸 悋惘愃惡悸) 惶惆惘 悽惠 惘悋惓悋
慍惘悋惺悸 悋悖愕悴悸 惆惘悋 悋惺悋 惡惘悋悴 悋惠惘惡悸 from Amr Saeed
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Mitochondrial disorders /amrsaeed7777/mitochndrial-disorders mitochndrialdisorders-181213192534
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 ]]>

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 ]]>
Thu, 13 Dec 2018 19:25:34 GMT /amrsaeed7777/mitochndrial-disorders amrsaeed7777@slideshare.net(amrsaeed7777) Mitochondrial disorders amrsaeed7777 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 <img style="border:1px solid #C3E6D8;float:right;" alt="" src="https://cdn.slidesharecdn.com/ss_thumbnails/mitochndrialdisorders-181213192534-thumbnail.jpg?width=120&amp;height=120&amp;fit=bounds" /><br> 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
Mitochondrial disorders from Amr Saeed
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