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Related Concept Videos

Mutations01:39

Mutations

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Overview
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Mutations01:35

Mutations

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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
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Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

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Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
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Adrenal Gland Disorders01:27

Adrenal Gland Disorders

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Adrenal gland disorders manifest when the production of adrenal hormones deviates from the norm, resulting in either excessive or insufficient concentrations.
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
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Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
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Abnormal Proliferation02:23

Abnormal Proliferation

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Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
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Gene mutations in Cushing's disease.

Qi Xiong1, Wei Ge2

  • 1National Key Laboratory of Medical Molecular Biology and Department of Immunology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Beijing 100005, P.R. China; Department of Orthopedics, General Hospital of Chinese PLA, Beijing 100853, P.R. China.

Biomedical Reports
|September 3, 2016
PubMed
Summary

Cushing's disease (CD) involves pituitary adenomas. This review examines gene mutations, including recent findings on ubiquitin-specific protease 8, to better understand CD's genetic basis.

Keywords:
Cushing's diseaseadrenocorticotropic hormonegene mutationpituitary adenomas

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Area of Science:

  • Endocrinology
  • Genetics
  • Oncology

Background:

  • Cushing's disease (CD) is a severe condition caused by adrenocorticotropic hormone (ACTH)-secreting pituitary adenomas.
  • The genetic underpinnings of CD are not well understood, as most cases are sporadic rather than familial.

Purpose of the Study:

  • To review and summarize the known gene mutations associated with Cushing's disease.
  • To highlight recent discoveries in the genetic mechanisms of CD.

Main Methods:

  • Literature review of studies on genetic mutations in Cushing's disease patients.
  • Analysis of reported gene alterations, including those in menin 1, aryl hydrocarbon receptor-interacting protein, and nuclear receptor subfamily 3 group C member 1.

Main Results:

  • Several genes, including MEN1, AIPL1, and NR3C1, have been implicated in CD pathogenesis.
  • Recent research identified mutations in ubiquitin-specific protease 8 (USP8) as a significant factor in CD development.

Conclusions:

  • Understanding gene mutations is crucial for elucidating the genetic mechanisms of Cushing's disease.
  • Further research into genetic factors like USP8 mutations will advance CD diagnosis and treatment.