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Task 3: Discuss Animal related disease that is due to the ineffective function of organelles. By: AHMAD SALLEHUDDIN BIN MUKHTARUDDIN D11A001 & ALVIN LEE JIN WEN D11A003. Mitochondrial disease: Symptoms.
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Task 3: Discuss Animal related disease that is due to the ineffective function of organelles By: AHMAD SALLEHUDDIN BIN MUKHTARUDDIN D11A001 & ALVIN LEE JIN WEN D11A003
Mitochondrial disease: Symptoms • poor growth, loss of muscle coordination, muscle weakness, visual problems, hearing problems, learning disabilities, heart disease, liver disease, kidney disease, gastrointestinal disorders, respiratory disorders, neurological problems, autonomic dysfunction, and dementia.
Mitochondrial disease: Characteristics • the distribution of the defective mitochondrial DNA may vary from organ to organ within the body, and each mutation is modulated by other genome variants, the mutation that in one individual may cause liver disease and cause a brain disorder in another • worsewhen the defective mitochondria are present in the muscles, cerebrum, or nervesbecause these cells use more energy than most other cells in the body.
Mitochondrial disease: Causes • The sperm does not contribute any mitochondria to the baby. Thus an individual's mitochondria are only inherited from his or her mother. A change in one of the mitochondrial genes that makes it faulty (mutation) can therefore be passed by the mother in her egg cells. As most of the mother's egg cells carry the same mitochondrial mutation, the risk of this mother having another affected child with the mitochondrial condition is high. This pattern of inheritance is therefore referred to as maternal inheritance.
Examples of Mitochondrial diseases • Mitochondrial myopathy (mitochondria related muscular disease) • Diabetes mellitus and deafness (at an early age) • Leber's hereditary optic neuropathy (visual loss beginning in young adulthood) • MELAS syndrome (Mitochondrialencephalomyopathy, lactic acidosis, and stroke-like episodes – abbreviated to MELAS) • cardiomyopathy
Mitochondrial disease: Treatment • vitamins are frequently prescribed, though the evidence for their effectiveness is limited • Human genetic engineering is already being used on a small scale to allow infertile women with genetic defects in their mitochondria to have children
Centriole - Aneuploidy • Nondisjunction usually occurs as the result of a weakened mitotic checkpoint, as these checkpoints tend to arrest or delay cell division until all components of the cell are ready to enter the next phase. • Aneuploidy is an abnormal number of chromosomes and is a type of chromosome abnormality. An extra or missing chromosome is a common cause of genetic disorders (birth defects).
Centriole - A Possible Link Between Centrioles, Calcium Deficiency and Cancer • “It is worth noting in this regard that recent studies have reported a correlation between calcium and vitamin D deficiency and prostate, colon and breast cancer. Analogs and metabolites of vitamin D inhibit the growth of prostate cancer cells in vitro and in vivo, and they have similar inhibitory effects on breast cancer cells. The correlation between calcium and vitamin D levels and cancer could be a consequence of the role of calcium in turning off a centriole-generated polar ejection force at the onset of anaphase.”
Lysosome - Lysosomalstorage disease • Problem-Lysosomal disorders are triggered when hydrolytic enzymeexists in too small an amount or is missing altogether. When this happens, substances accumulate in the cell. In other words, when the lysosome doesn’t function normally, excess products destined for breakdown and recyclingare stored in the cell. • Causes- Like other genetic diseases, individuals inherit lysosomal storage diseases from their parents.
Lysosome - Lysosomal storage disease • Symptoms- developmental delay, movement disorder seizures, dementia, deafness and/or blindness, enlarged livers (hepatomegaly) and enlarged spleens (splenomegaly),pulmonary and cardiac problems, and bones that grow abnormally. • Treatment: bone marrow transplantation and enzyme replacement therapy (ERT) have been tried with some success, experimental technique of gene therapy may offer cures in the future