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Mucolipidosis Type IV
Mucolipidosis type IV (ML IV, ganglioside sialidase deficiency, or ML4) is an autosome, autosomal dominance (genetics), recessive lysosomal storage disorder. Individuals with the disorder have many symptoms including delayed psychomotor development and various ocular aberrations. The disorder is caused by mutations in the MCOLN1 gene, which encodes a non-selective cation Ion channel, channel, mucolipin1. These mutations disrupt cellular functions and lead to a neurodevelopmental disorder through an unknown mechanism. Researchers dispute the physiological role of the protein product and which ion it transports. Signs and symptoms Most patients with ML IV show psychomotor retardation (i.e., delayed development of movement and coordination (physiology), coordination), corneal opacity, retinal degeneration and other ophthalmology, ophthalmological abnormalities. Other symptoms include agenesis of the corpus callosum, iron deficiency (medicine), iron deficiency resulting from an absence ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosome
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other irregular combinations, are known to occur and usually cause developmental abnormalities. Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y chromos ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Endosome
Endosomes are a collection of intracellular sorting organelles in eukaryotic cells. They are parts of the endocytic membrane transport pathway originating from the trans Golgi network. Molecules or ligands internalized from the plasma membrane can follow this pathway all the way to lysosomes for degradation or can be recycled back to the cell membrane in the endocytic cycle. Molecules are also transported to endosomes from the trans Golgi network and either continue to lysosomes or recycle back to the Golgi apparatus. Endosomes can be classified as early, sorting, or late depending on their stage post internalization. Endosomes represent a major sorting compartment of the endomembrane system in cells. Function Endosomes provide an environment for material to be sorted before it reaches the degradative lysosome. For example, low-density lipoprotein (LDL) is taken into the cell by binding to the LDL receptor at the cell surface. Upon reaching early endosomes, the LDL dis ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive Disorders
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other irregular combinations, are known to occur and usually cause developmental abnormalities. Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y chromosome ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lysosomal Storage Diseases
Lysosomal storage diseases (LSDs; ) are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling. This process requires several critical enzymes. If one of these enzymes is defective due to a mutation, the large molecules accumulate within the cell, eventually killing it. Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar-containing proteins), or mucopolysaccharides. Individually, lysosomal storage diseases occur with incidences of less than 1:100,000; however, as a group, the incidence is about 1:5,000 – 1:10,000. Most of these disorders are autosomal recessively inherited such as Niemann–Pick disease, type C, but a few are X-linked recessively inherited, such as Fa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ashkenazi Jew
Ashkenazi Jews ( ; also known as Ashkenazic Jews or Ashkenazim) form a distinct subgroup of the Jewish diaspora, that Ethnogenesis, emerged in the Holy Roman Empire around the end of the first millennium Common era, CE. They traditionally speak Yiddish, a language that originated in the 9th century, and largely migrated towards Northern Europe#UN geoscheme classification, northern and eastern Europe during the late Middle Ages due to Antisemitism in Europe, persecution. Hebrew was primarily used as a Literary language, literary and sacred language until its 20th-century Revival of the Hebrew language, revival as a common language in Israel. Ashkenazim adapted their traditions to Europe and underwent a transformation in their interpretation of Judaism. In the late 18th and 19th centuries, Jews who remained in or returned to historical German lands experienced a cultural reorientation. Under the influence of the Haskalah and the struggle for emancipation, as well as the intellec ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cerebral Palsy
Cerebral palsy (CP) is a group of movement disorders that appear in early childhood. Signs and symptoms vary among people and over time, but include poor coordination, spasticity, stiff muscles, Paresis, weak muscles, and tremors. There may be problems with sense, sensation, visual perception, vision, hearing, and speech. Often, babies with cerebral palsy do not roll over, sit, crawl or walk as early as other children. Other symptoms may include seizures and problems with cognition, thinking or reasoning. While symptoms may get more noticeable over the first years of life, underlying problems do not worsen over time. Cerebral palsy is caused by abnormal development or damage to the parts of the brain that control movement, balance, and posture. Most often, the problems occur during pregnancy, but may occur during childbirth or shortly afterwards. Often, the cause is unknown. Risk factors include preterm birth, being a twin, certain infections or exposure to methylmercury duri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mucolipidosis
Mucolipidosis is a group of inherited metabolic disorders that affect the body's ability to carry out the normal turnover of various materials within cells. When originally named, the mucolipidoses derived their name from the similarity in presentation to both mucopolysaccharidoses and sphingolipidoses. A biochemical understanding of these conditions has changed how they are classified. Four conditions (types I, II, III, and IV) were historically labeled as mucolipidoses. However, type I ( sialidosis) is now classified as a glycoproteinosis, and type IV ( Mucolipidosis type IV) is now classified as a gangliosidosis. ML II and III The other two types are closely related. Mucolipidosis types II and III (ML II and ML III) result from a deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase, which phosphorylates target carbohydrate residues on N-linked glycoproteins. Without this phosphorylation, the glycoproteins are not destined for lysosomes, and they escap ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Iron
Iron is a chemical element; it has symbol Fe () and atomic number 26. It is a metal that belongs to the first transition series and group 8 of the periodic table. It is, by mass, the most common element on Earth, forming much of Earth's outer and inner core. It is the fourth most abundant element in the Earth's crust, being mainly deposited by meteorites in its metallic state. Extracting usable metal from iron ores requires kilns or furnaces capable of reaching , about 500 °C (900 °F) higher than that required to smelt copper. Humans started to master that process in Eurasia during the 2nd millennium BC and the use of iron tools and weapons began to displace copper alloys – in some regions, only around 1200 BC. That event is considered the transition from the Bronze Age to the Iron Age. In the modern world, iron alloys, such as steel, stainless steel, cast iron and special steels, are by far the most common industrial metals, due to their mechan ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anemia
Anemia (also spelt anaemia in British English) is a blood disorder in which the blood has a reduced ability to carry oxygen. This can be due to a lower than normal number of red blood cells, a reduction in the amount of hemoglobin available for oxygen transport, or abnormalities in hemoglobin that impair its function. The name is derived . When anemia comes on slowly, the symptoms are often vague, such as Fatigue, tiredness, weakness, shortness of breath, headaches, and a Exercise intolerance, reduced ability to exercise. When anemia is acute, symptoms may include confusion, lightheadedness, feeling like one is going to pass out, Syncope (medicine), loss of consciousness, and polydipsia, increased thirst. Anemia must be significant before a person becomes noticeably Pallor, pale. Additional symptoms may occur depending on the underlying cause. Anemia can be temporary or long term and can range from mild to severe. Anemia can be caused by blood loss, decreased red blood cel ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breed ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Endocytosis
Endocytosis is a cellular process in which Chemical substance, substances are brought into the cell. The material to be internalized is surrounded by an area of cell membrane, which then buds off inside the cell to form a Vesicle (biology and chemistry), vesicle containing the ingested materials. Endocytosis includes pinocytosis (cell drinking) and phagocytosis (cell eating). It is a form of active transport. History The term was proposed by Christian de Duve, De Duve in 1963. Phagocytosis was discovered by Élie Metchnikoff in 1882. Pathways Endocytosis pathways can be subdivided into four categories: namely, receptor-mediated endocytosis (also known as clathrin-mediated endocytosis), caveolae, pinocytosis, and phagocytosis. * Clathrin-mediated endocytosis is mediated by the production of small (approx. 100 nm in diameter) vesicles that have a morphologically characteristic coat made up of the cytosolic protein clathrin. Clathrin-coated vesicles (CCVs) are found in vir ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Exocytosis
Exocytosis is a term for the active transport process that transports large molecules from cell to the extracellular area. Hormones, proteins and neurotransmitters are examples of large molecules that can be transported out of the cell. Exocytosis is a crucial transport mechanism that enables polar molecules to flow through the cell membranes’ hydrophobic lipid bilayer. The transport process is essential to hormone secretion, immune response and neurotransmission. Both prokaryotes and eukaryotes undergo exocytosis. Prokaryotes secrete molecules and cellular waste through translocons that are localized to the cell membrane. In addition, they secrete molecules to other cells through specialized organs. Eukaryotes rely on multiple cellular processes to perform the exocytosis process. Eukaryotes have several organelles and a nucleus in the cytoplasm that are connected through multiple transport routes, that is formally known as the secretory pathway. This is a complex pathway with ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
