Search results
Results From The WOW.Com Content Network
In I-cell disease, the inclusions form due to a defect in the sorting of enzymes to the lysosomes, where waste materials are broken down. This defect is caused by a mutation in the GNPTAB gene in the enzyme N-acetylglucosamine-1-phosphotransferase. [3] This leads to a failure to tag the lysosomal enzymes with mannose-6-phosphate. Without this ...
I-cell disease is an autosomal recessive disorder caused by a deficiency of GlcNAc phosphotransferase, which phosphorylates mannose residues to mannose-6-phosphate on N-linked glycoproteins in the Golgi apparatus within cells.
Cell damage (also known as cell injury) is a variety of changes of stress that a cell suffers due to external as well as internal environmental changes. Amongst other causes, this can be due to physical, chemical, infectious, biological, nutritional or immunological factors. Cell damage can be reversible or irreversible.
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.
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.
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.
Hunter syndrome is caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). [2] [3] The lack of this enzyme causes heparan sulfate and dermatan sulfate to accumulate in all body tissues. [4] Hunter syndrome is the only MPS syndrome to exhibit X-linked recessive inheritance. [4] The symptoms of Hunter syndrome are comparable ...
The other two disorders are neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). [5] [6] Although all have a similar molecular basis for disease, Zellweger syndrome is the most severe of these three disorders. [7] Zellweger syndrome is associated with impaired neuronal migration, neuronal positioning, and brain development. [4]