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Related Concept Videos

Cellular Adaptation II: Hypertrophy01:26

Cellular Adaptation II: Hypertrophy

Hypertrophy is the increase in the size of individual cells, resulting in the enlargement of a tissue or organ. Unlike hyperplasia, which involves an increase in cell number, hypertrophy is characterized by an increase in cell volume. This process often occurs in response to higher functional demand or hormonal stimulation, leading to the production of more structural proteins and organelles, thereby enhancing the cells' work capacity.There are two primary types of hypertrophy: physiological...
Goiter01:27

Goiter

Goiter refers to an abnormal enlargement of the thyroid gland that may appear as a diffuse goiter (uniform enlargement) or nodular (single or multiple nodules). Functionally, it is classified as nontoxic (normal/low hormone levels) or toxic (excess hormone production).PathophysiologyDiffuse thyroid enlargement typically results from prolonged stimulation by thyroid-stimulating hormone (TSH) or TSH-like agents, commonly seen in hypothyroidism or iodine deficiency. In contrast, in hyperthyroid...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
Cellular Adaptation III: Hyperplasia01:26

Cellular Adaptation III: Hyperplasia

Hyperplasia is an increase in the number of cells in a tissue or organ due to enhanced cell division. It is an adaptive, controlled response to stimuli such as injury, hormones, or stress, involving mitosis to produce genetically identical cells and support tissue repair and regeneration.Tissue CapacityCertain tissues, including the epidermis, intestinal epithelium, bone marrow, and fibroblasts, have a high potential for hyperplasia. Others, such as bone, cartilage, and smooth muscle, show...

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Related Experiment Video

Updated: May 22, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Familial gigantism.

Wouter W de Herder1

  • 1Department of Internal Medicine, Sector of Endocrinology, Erasmus MC, Rotterdam, the Netherlands. w.w.deherder@erasmusmc.nl

Clinics (Sao Paulo, Brazil)
|May 16, 2012
PubMed
Summary

Hereditary growth hormone-secreting pituitary tumors are linked to three genetic syndromes: multiple endocrine neoplasia type 1, Carney complex, and familial isolated pituitary adenomas.

Area of Science:

  • Endocrinology
  • Genetics
  • Oncology

Background:

  • Growth hormone (GH)-secreting pituitary tumors can be sporadic or familial.
  • Understanding the genetic basis of these tumors is crucial for diagnosis and management.

Observation:

  • Familial GH-secreting tumors are associated with specific hereditary syndromes.
  • These syndromes include multiple endocrine neoplasia type 1 (MEN1), Carney complex, and familial isolated pituitary adenomas (FIPA).

Findings:

  • The genetic underpinnings of MEN1, Carney complex, and FIPA predispose individuals to pituitary adenomas.
  • GH-secreting tumors are a recognized manifestation within these distinct hereditary contexts.

Implications:

  • Genetic screening can identify individuals at risk for familial GH-secreting tumors.

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Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
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  • Early diagnosis and management of these syndromes can improve patient outcomes.
  • Further research into the specific genetic pathways involved may reveal novel therapeutic targets.