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  2. Ribosomopathy - Wikipedia

    en.wikipedia.org/wiki/Ribosomopathy

    In humans, as in most eukaryotes, the 18S rRNA is a component of 40S ribosomal subunit, and the 60S large subunit contains three rRNA species (the 5S, 5.8S and 28S in mammals, 25S in plants). 60S rRNA acts as a ribozyme, catalyzing peptide bond formation, while 40S monitors the complementarity between tRNA anticodon and mRNA. [citation needed]

  3. Mitochondrial disease - Wikipedia

    en.wikipedia.org/wiki/Mitochondrial_disease

    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.

  4. List of autoimmune diseases - Wikipedia

    en.wikipedia.org/wiki/List_of_autoimmune_diseases

    This article provides a list of autoimmune diseases. These conditions, where the body's immune system mistakenly attacks its own cells, affect a range of organs and systems within the body. Each disorder is listed with the primary organ or body part that it affects and the associated autoantibodies that are typically found in people diagnosed ...

  5. Cell damage - Wikipedia

    en.wikipedia.org/wiki/Cell_damage

    The most notable components of the cell that are targets of cell damage are the DNA and the cell membrane.. DNA damage: In human cells, both normal metabolic activities and environmental factors such as ultraviolet light and other radiations can cause DNA damage, resulting in as many as one million individual molecular lesions per cell per day.

  6. Mucopolysaccharidosis - Wikipedia

    en.wikipedia.org/wiki/Mucopolysaccharidosis

    Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within the cells that help build bone, cartilage, tendons, corneas, skin and connective tissue.

  7. List of abbreviations for diseases and disorders - Wikipedia

    en.wikipedia.org/wiki/List_of_abbreviations_for...

    GBS disease Group B Streptococcal disease: GCE Glycine encephalopathy: GD Gestational diabetes: GERD Gastroesophageal reflux disease: GI Gastrointestinal: GIB Gastrointestinal bleeding: GN Glossopharyngeal neuralgia: GORD Gastro-oesophageal reflux disease: GSS disease Gerstmann–Sträussler–Scheinker disease: GT/LD Gifted and learning ...

  8. Lysosomal storage disease - Wikipedia

    en.wikipedia.org/wiki/Lysosomal_storage_disease

    Tay–Sachs disease was the first of these disorders to be described, in 1881, followed by Gaucher disease in 1882. In the late 1950s and early 1960s, de Duve and colleagues, using cell fractionation techniques, cytological studies, and biochemical analyses, identified and characterized the lysosome as a cellular organelle responsible for ...

  9. Hurler syndrome - Wikipedia

    en.wikipedia.org/wiki/Hurler_syndrome

    As of 2018, more than 201 different mutations in the IDUA gene have been shown to cause MPS I. [6] Because Hurler syndrome is an autosomal recessive disorder, affected persons have two nonworking copies of the gene. A person born with one normal copy and one defective copy is called a carrier. They will produce less α-L-iduronidase than an ...