A tornado is a violently rotating column of air that is in contact with both the surface of the Earth and a cumulonimbus cloud or, in rare cases, the base of a cumulus cloud. It is often referred to as a twister, whirlwind or cyclone, although the word cyclone is used in meteorology to name a weather system with a low-pressure area in the center around which, from an observer looking down toward the surface of the Earth, winds blow counterclockwise in the Northern Hemisphere and clockwise in the Southern. Tornadoes come in many shapes and sizes, and they are often visible in the form of a condensation funnel originating from the base of a cumulonimbus cloud, with a cloud of rotating debris and dust beneath it. Most tornadoes have wind speeds less than 180 km/h (110 mph), are about 80 m (250 feet) across, and travel several kilometers (a few miles) before dissipating. The most extreme tornadoes can attain wind speeds of more than 480 km/h (300 mph), are more than 3 km (2 miles) in diameter, and stay on the ground for more than 100 km (60 miles).Various types of tornadoes include the multiple vortex tornado, landspout, and waterspout. Waterspouts are characterized by a spiraling funnel-shaped wind current, connecting to a large cumulus or cumulonimbus cloud. They are generally classified as non-supercellular tornadoes that develop over bodies of water, but there is disagreement over whether to classify them as true tornadoes.
Mucolipidosis type IV (ML IV, ganglioside sialidase deficiency, or ML4) is an autosomal 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 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), corneal opacity, retinal degeneration and other ophthalmological abnormalities. Other symptoms include agenesis of the corpus callosum, iron deficiency resulting from an absence of acid secretion in the stomach, achlorhydria. Achlorhydria in these patients results in an increase in blood gastrin levels. These symptoms typically manifest early in life (within the first year). After disease onset there occurs a period of stability, typically lasting two to three decades during which very little disease progression occurs. Pathophysiology
Mucolipin1 is thought to be localized in endosomes. An important property of mucolipin1 is that decreasing pH (acidification) results in deactivation of the protein, likely through an assembly defect. There are at least 29 known mutations in MCOLN1, located throughout the gene. Many of the known mutations result in no expression of mucolipin1. Milder mutations, such as ΔF408 and V446L, produce a dysfunctioning form of the cation channel.