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Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells. They convert the energy of food molecules into the ATP that powers most cell functions.
Sickle cell disease is a group of inherited blood disorders, caused by a genetic abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. [57] Under certain circumstances, this leads to the red blood cells adopting an abnormal sickle -like shape; with this shape, they are unable to deform as they pass through capillaries ...
Pearson syndrome is a mitochondrial disease caused by a deletion in mitochondrial DNA (mtDNA). [3] An mtDNA is genetic material contained in the cellular organelle called the mitochondria. Depending on the tissue type, each cell contains hundreds to thousands of mitochondria. There are 2–10 mtDNA molecules in each mitochondrion.
The mucopolysaccharidoses are part of the lysosomal storage disease family, a group of genetic disorders that result when the lysosome organelle in animal cells malfunctions. The lysosome can be thought of as the cell's recycling center because it processes unwanted material into other substances that the cell can utilize.
Hydrolases secreted into the blood stream cause little problem as they are inactivate at the near neutral pH of blood (7.4). [citation needed] It can be associated with N-acetylglucosamine-1-phosphate transferase (GNPTA). [6] In a case report, I-cell disease was complicated by severe dilative cardiomyopathy (DCM). [7]
A cell containing Pappenheimer bodies is a siderocyte. Reticulocytes often contain Pappenheimer bodies. They are mostly observed in diseases such as myelodysplastic syndrome (MDS), sideroblastic anemia, hemolytic anemia, lead poisoning and sickle cell disease. They can interfere with platelet counts when the analysis is performed by electro ...
This is to ensure that each daughter cell gets a copy of every gene. However, organelle genes in heteroplasmic cells can segregate because they each have several copies of their genome. This may result in daughter cells with differential proportions of organelle genotypes. [8] Mendel states that nuclear alleles always segregate during meiosis.
Lysosomal storage diseases (LSDs; / ˌ l aɪ s ə ˈ s oʊ m əl /) are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function. [1] [2] Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling.