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Related Concept Videos

Lipid Catabolism01:25

Lipid Catabolism

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Triglycerides serve as crucial long-term energy storage molecules in microorganisms, providing a dense source of metabolic energy. Their breakdown is mediated by lipases, which hydrolyze triglycerides into glycerol and free fatty acids. Each of these components follows distinct metabolic pathways, ultimately contributing to ATP synthesis and cellular energy homeostasis.Glycerol MetabolismGlycerol, released from triglyceride hydrolysis, is phosphorylated by glycerol kinase to form...
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Overview of Lipid Metabolism01:24

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Lipid metabolism is a crucial process in the human body that involves the synthesis and degradation of lipids. This process is essential for energy production, cell membrane formation, and hormone production, among other functions.
Lipolysis: The Breakdown of Lipids:
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Dietary triglycerides from chyme in the duodenum are mixed with bile salts produced by the liver to emulsify fats. As a result, large droplets are broken down into smaller ones, increasing the surface area for enzymatic action. Once emulsified, pancreatic lipases hydrolyze the triglycerides into free fatty acids and monoglycerides.
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Biological membranes show uneven distribution of different types of lipids in the inner and outer layers, resulting in transverse asymmetric membranes. The treatment of the erythrocyte membrane with the enzyme phospholipase confirmed the asymmetric nature of the lipid bilayer. The enzyme hydrolyzes lipids into fatty acids and hydrophilic groups. The phospholipase acts only on the outer layer of the membrane, while the inner layer remains intact. The phospholipase treatment resulted in 80%...
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Related Experiment Video

Updated: Mar 1, 2026

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
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Partial Encephalocraniocutaneous Lipomatosis Syndrome.

S Velusamy1, S Sindhu Bharathi1, B Krishnakumar1

  • 1Department of Paediatric Neurology, Stanley Medical College, Chennai, Tamil Nadu, India.

Journal of Pediatric Neurosciences
|May 30, 2017
PubMed
Summary

Encephalocranial lipomatosis, a rare disorder affecting ectomesodermal tissues, was diagnosed in a young girl. She presented with developmental delay, seizures, and neurological abnormalities.

Keywords:
Encephalocranial lipomatosismicrocephalyocular dermoid

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Area of Science:

  • Neurology
  • Genetics
  • Developmental Biology

Background:

  • Encephalocranial lipomatosis is a rare congenital disorder.
  • It involves ectomesodermal tissues, including the central nervous system, skin, and eyes.

Observation:

  • A 3-year-old girl presented with developmental delay, seizures, limbal dermoid, and right lower limb weakness.
  • Neuroimaging revealed hemiatrophy, arachnoid cyst, and polymicrogyria.

Findings:

  • The clinical presentation and imaging findings were consistent with encephalocranial lipomatosis.
  • This case highlights the diverse neurological manifestations of the disorder.

Implications:

  • Early diagnosis and management are crucial for improving outcomes in patients with encephalocranial lipomatosis.
  • Further research is needed to understand the underlying mechanisms and develop targeted therapies.