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Cholesterol: Significance and Regulation01:29

Cholesterol: Significance and Regulation

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Although not a source of energy, cholesterol plays a significant role as a foundational structure for bile salts, steroid hormones, and vitamin D, as well as being a crucial component of plasma membranes. Approximately 15% of blood cholesterol is derived from our diet, with the remainder synthesized from acetyl CoA by the liver and intestines. Cholesterol is eliminated from the body through its conversion into bile salts, which are eventually discarded in the feces.
Considering cholesterol and...
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Cohesins02:20

Cohesins

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Cohesin protein complexes are a molecular glue that holds two sister chromatids together. They play an important role both in mitosis and meiosis. In mitosis, all cohesin complexes present on the chromosomes are removed before the start of the anaphase stage.
Cohesin complexes in Meiotic Division
Meiosis involves two distinct rounds of chromosomal segregation and cell divisions— Meiosis I followed by Meiosis II – producing four daughter cells. Meiosis I includes the separation of...
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Separation of Sister Chromatids02:17

Separation of Sister Chromatids

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At the transition from prophase to metaphase, there is a reduction in cohesion along the chromosomal arms, resulting in the resolution of sister chromatids. However, residual cohesin connections remain to hold the sister chromatids together until the transition from metaphase to anaphase. The residual connection prevents any premature separation of sister chromatids, blocking the risks of aneuploidy within the daughter cells.
At the onset of anaphase, separase, a proteolytic enzyme, is...
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The Spindle Assembly Checkpoint02:19

The Spindle Assembly Checkpoint

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The spindle assembly checkpoint is a molecular surveillance mechanism ensuring the fidelity of chromosome segregation during anaphase. The checkpoint monitors the completion of all the prerequisite steps before chromosome segregation to determine whether the segregation process should proceed or be delayed.
Many proteins function together to control the spindle assembly checkpoint. Mutations affecting these proteins may allow cells to proceed into anaphase prematurely, resulting in the...
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Cholecystitis01:20

Cholecystitis

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Cholecystitis is inflammation of the gallbladder, most commonly caused by obstruction of the cystic duct. This blockage prevents bile from draining, leading to gallbladder distension, inflammation, and potentially serious complications. This condition may present acutely or chronically and can happen with or without gallstones.EtiologyAbout 95% of cholecystitis cases are calculous, caused by gallstones blocking the cystic duct, leading to bile accumulation and inflammation of the gallbladder...
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Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
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Related Experiment Video

Updated: Apr 30, 2026

Analysis of SCAP N-glycosylation and Trafficking in Human Cells
11:27

Analysis of SCAP N-glycosylation and Trafficking in Human Cells

Published on: November 8, 2016

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Cholesterol Side-Chain Cleavage Enzyme (SCC) Deficiency.

Noriyuki Katsumata1

  • 1Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology
|May 3, 2014
PubMed
Summary

Cholesterol side-chain cleavage enzyme (SCC) deficiency, caused by CYP11A1 gene mutations, leads to adrenal insufficiency and 46,XY sex reversal. Further studies are needed to differentiate it from StAR deficiency.

Keywords:
CYP11A1STARcholesterol side-chain cleavage enzyme (SCC)congenital lipoid adrenal hyperplasiasteroidogenic acute regulatory protein (StAR)

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Area of Science:

  • Endocrinology
  • Genetics
  • Biochemistry

Background:

  • Cholesterol side-chain cleavage enzyme (SCC) is crucial for steroid hormone biosynthesis.
  • SCC deficiency was previously thought to be lethal.
  • Recent findings identify SCC deficiency as an autosomal recessive disorder linked to CYP11A1 gene mutations.

Purpose of the Study:

  • To describe the clinical and genetic aspects of Cholesterol side-chain cleavage enzyme (SCC) deficiency.
  • To compare SCC deficiency with Steroidogenic Acute Regulatory (StAR) protein deficiency.

Main Methods:

  • Genetic analysis of patients with suspected SCC deficiency.
  • Clinical evaluation of symptoms including adrenal insufficiency and 46,XY sex reversal.
  • Comparison of patient data with known cases of StAR deficiency.

Main Results:

  • SCC deficiency results from inactivating mutations in the CYP11A1 gene.
  • Affected individuals present with adrenal insufficiency and 46,XY sex reversal.
  • Clinical features overlap significantly with StAR deficiency.

Conclusions:

  • SCC deficiency is a recognized genetic disorder impacting steroidogenesis.
  • Distinguishing SCC deficiency from StAR deficiency requires further patient data accumulation.
  • Understanding these differences is vital for accurate diagnosis and management of steroidogenic disorders.