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Related Concept Videos

Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
Type IV Collagen of Basal Lamina01:05

Type IV Collagen of Basal Lamina

Type IV collagen is a 400 nm long, network-forming collagen that acts as a barrier between the epithelial and endothelial cells. Type IV collagen  forms the backbone of the basement membrane by scaffolding with laminin, entactin, proteoglycans, and fibronectin. Apart from rendering structural support to the basement membrane, it also helps entail signaling potentials necessary for both pathological and physiological functions.
A type IV collagen molecule has six alpha chains which can exist in...
Alzheimer Disease l: Introduction01:29

Alzheimer Disease l: Introduction

Alzheimer disease is a chronic, progressive, and irreversible neurodegenerative disorder and the most common cause of dementia in older adults. It leads to gradual neuronal loss, causing cognitive decline, behavioral changes, and loss of functional independence.Risk Factors and EtiologyThe disease is multifactorial. Age is the strongest risk factor, with prevalence doubling every 5 years after age 65. Genetic factors include mutations in genes such as APP, PSEN1, and PSEN2, which are associated...
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Esophageal Achalasia01:27

Esophageal Achalasia

Esophageal achalasia is a chronic neurogenic disorder characterized by impaired relaxation of the lower esophageal sphincter (LES) and absent or ineffective peristalsis in the distal esophagus. This leads to a functional obstruction without a physical blockage, despite significant disruption of esophageal motility.EtiologyAchalasia is caused by degeneration of the myenteric (Auerbach's) plexus, specifically the loss of inhibitory ganglion cells that produce vasoactive intestinal peptide (VIP)...

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Related Experiment Video

Updated: Jul 10, 2026

Determining Bile Duct Density in the Mouse Liver
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Determining Bile Duct Density in the Mouse Liver

Published on: April 30, 2019

Alström syndrome.

Jan D Marshall1, Sebastian Beck, Pietro Maffei

  • 11The Jackson Laboratory, Bar Harbor, ME 04609, USA. jan.marshall@jax.org

European Journal of Human Genetics : EJHG
|October 18, 2007
PubMed
Summary

Alström Syndrome is a rare genetic disorder causing vision loss, hearing loss, obesity, and diabetes. Early intervention can improve patient quality of life and lifespan.

Area of Science:

  • Genetics and Molecular Biology
  • Endocrinology
  • Ophthalmology
  • Cardiology
  • Pulmonology
  • Nephrology

Background:

  • Alström Syndrome is a rare, autosomal recessive genetic disorder.
  • Caused by mutations in the ALMS1 gene, its molecular function is currently unknown.
  • It is a multisystemic disorder affecting multiple organs and systems.

Purpose of the Study:

  • To provide a comprehensive overview of Alström Syndrome.
  • To detail the various clinical phenotypes associated with the disorder.
  • To emphasize the importance of early diagnosis and intervention.

Main Methods:

  • This abstract summarizes existing knowledge on Alström Syndrome.

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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

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Last Updated: Jul 10, 2026

Determining Bile Duct Density in the Mouse Liver
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Published on: April 30, 2019

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

  • Information is compiled from various clinical reports and genetic studies.
  • No new experimental data is presented.

    • Main Results:

    • Alström Syndrome presents with cone-rod retinal dystrophy (juvenile blindness), sensorineural hearing loss, obesity, insulin resistance, and type 2 diabetes.
    • Additional severe phenotypes include endocrine abnormalities, dilated cardiomyopathy, pulmonary fibrosis, restrictive lung disease, and progressive hepatic and renal failure.
    • Other features may include hypertension, hypothyroidism, hyperlipidemia, hypogonadism, urological issues, short stature, and skeletal disturbances.

    Conclusions:

    • Alström Syndrome significantly impacts multiple organ systems and reduces life expectancy, often below 40 years.
    • While no specific cure exists, early diagnosis and management can mitigate disease progression.
    • Interventions can improve patient longevity and quality of life.