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Understanding Alagille Syndrome and Genetic Implications

Alagille Syndrome is a genetic disorder affecting liver, heart, and more. Learn its symptoms, inheritance pattern, and treatment. Researcher J.F. Explore how this syndrome impacts the flow of bile and overall health. References from reliable sources provided

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Understanding Alagille Syndrome and Genetic Implications

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  1. Chapter 20: Chromosome 20 Condition/Disease Alagille Syndrome DNA Sequence Chromosome 59,187,298 bp Name of Protein “Prion Protein” 20 Name of Gene AHCY transcription Amino acid sequence mRNA 15,438 aa translation Cytoplasm A Cell Nucleus What does this protein make up or do? This gene is associated with lots of diseases such as Creutzfeldt-Jakob disease. Include the transport of copper into cells and protection of brain cells (neurons) from injury (neuroprotection).

  2. Description of Alagille Syndrome • Symptoms and characteristics • Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body. • Symptoms include a yellowish tinge in the skin, and whites of the eyes (Jaundice), itch skin and deposits of cholesterol in the skin • Some people with Alagille syndrome may have isolated signs of the disorder, such as a heart defect like tetralogy of Fallot, or a characteristic facial appearance. These individuals do not have liver disease or other features typical of the disorder. • This condition is inherited in an autosomal dominant pattern, which means one copy of the altered or deleted gene in each cell can cause the disorder. Normal Vision As viewed by a person with glaucoma Pictures used with permission from URL: http://www.nei.nih.gov/health/glaucoma/glaucoma_facts.asp

  3. Description of Alagille Syndrome (cont.) • Who is affected? Anyone, but the following have a higher risk: • Newborns • Children between the ages of 4-10 • People with a family history of Alagille Syndrome • Outlook or quality of life • Generally, the syndrome involves five distinct findings, including reduced bile flow, congenital heart disease, bone defects, a thickening of a line on the surface of the eye, and particular facial features. Diagnosis can be confirmed by genetic analysis. • increase the flow of bile from the liver, maintaining the child’s normal growth and development pattern, and correcting any of the nutritional deficiencies that often develop. • Researcher: JF

  4. References • http://ghr.nlm.nih.gov/chromosome/20 • http://en.wikipedia.org/wiki/Chromosome_20_(human) • http://www.nature.com/nature/journal/v414/n6866/full/4148 65a.html • http://www.liverfoundation.org/abouttheliver/info/alagille/

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