Laminopathy

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Laminopathy

Laminopathy (pronunciation: /ˌlæmɪˈnɒpəθi/) is a term used to describe a group of rare genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina. These disorders are characterized by a wide range of clinical manifestations, including muscular dystrophy, lipodystrophy, and premature aging syndromes.

Etymology

The term "laminopathy" is derived from the word "lamina", which refers to a thin layer or membrane, and the Greek word "pathos", meaning suffering or disease. It was first used in the late 20th century to describe diseases caused by mutations in the lamin A/C gene.

Related Terms

  • Nuclear Lamina: The nuclear lamina is a dense fibrillar network inside the nucleus of a eukaryotic cell. It is composed of intermediate filaments and membrane associated proteins.
  • Lamin A/C: Lamin A and lamin C are structural proteins that provide stability and strength to cells. Mutations in the gene that encodes these proteins can lead to various forms of laminopathy.
  • Muscular Dystrophy: Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. Some forms of laminopathy, such as Emery-Dreifuss muscular dystrophy, are characterized by this symptom.
  • Lipodystrophy: Lipodystrophy is a medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue. Some forms of laminopathy, such as familial partial lipodystrophy, are characterized by this symptom.
  • Progeria: Progeria is a rare genetic condition that produces rapid aging in children. Hutchinson-Gilford progeria syndrome, a type of laminopathy, is characterized by this symptom.

See Also

External links

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