Genetic mutations cause a group of rare intestinal diseases called congenital diarrheal disorders (CDD). In a study published in the Journal of Clinical Investigation, Robert Farese and colleagues at the University of California, San Francisco, identified a family with two of three children affected by CDD. The affected children both carried a rare mutation in the DGAT1 gene. DGAT1 mediates the formation of triglycerides and is being assessed as a therapeutic target in the treatment of obesity. The study by Farese's group suggests that targeting of DGAT1 could cause a severe diarrheal disorder. TITLE:DGAT1 mutation is linked to a congenital diarrheal disorder AUTHOR CONTACT:Robert Farese, Jr.University of California, San Francisco, San Francisco, CA, USAPhone: 415-734-2000; Fax: 415-355-0960; Source: Eurekalert << Type of Toilet Training Method Not Linked With Urinary Acci... Combining HER2-Inhibiting Drug With Angiogenesis Inhibitor ... >> Recommended Reading Salmonellosis Poor hygienic practices during cooking or handling of food products can cause this distressing infection of the intestines leading to diarrhea, cramps and fever. READ MORE Waterborne Diseases Waterborne diseases are communicable diseases caused by diseases causing microorganisms in contaminated water. It is more prevalent during floods and in tsunami affected areas. READ MORE Cholera Cholera is an infection of the small intestine and is caused by the bacterium Vibrio cholerae. READ MORE Giardiasis Giardiasis is an infection of the small intestine caused by a parasite called Giardia lamblia . READ MORE Arthrogryposis Arthrogryposis or Arthrogryposis multiplex congenita (AMC) is not a specific diagnosis but a clinical finding of permanent shortening of joints (also termed non-progressive congenital contractures) present at birth. Affected persons have stiff joints and muscle weakness. READ MORE DOOR Syndrome / Rare Genetic Disorder DOOR syndrome is a rare genetic disorder marked by deafness, short or absent fingernails, abnormal development of digits, and intellectual impairment. It is non-progressive and treatment is mainly supportive. READ MORE McArdle Disease McArdle disease is a genetic disorder in which the body cannot breakdown glycogen in the muscles. It also known as McArdle syndrome or Glycogen storage disease type V (GSD-V). READ MORE Most Popular on Medindia How to Reduce School Bag Weight - Simple Tips Pregnancy Confirmation Calculator Diaphragmatic Hernia More News on: McArdle DiseaseArthrogryposisDOOR Syndrome / Rare Genetic Disorder
Genetic mutations cause a group of rare intestinal diseases called congenital diarrheal disorders (CDD). In a study published in the Journal of Clinical Investigation, Robert Farese and colleagues at the University of California, San Francisco, identified a family with two of three children affected by CDD. The affected children both carried a rare mutation in the DGAT1 gene. DGAT1 mediates the formation of triglycerides and is being assessed as a therapeutic target in the treatment of obesity. The study by Farese's group suggests that targeting of DGAT1 could cause a severe diarrheal disorder. TITLE:DGAT1 mutation is linked to a congenital diarrheal disorder AUTHOR CONTACT:Robert Farese, Jr.University of California, San Francisco, San Francisco, CA, USAPhone: 415-734-2000; Fax: 415-355-0960; Source: Eurekalert << Type of Toilet Training Method Not Linked With Urinary Acci... Combining HER2-Inhibiting Drug With Angiogenesis Inhibitor ... >> Recommended Reading Salmonellosis Poor hygienic practices during cooking or handling of food products can cause this distressing infection of the intestines leading to diarrhea, cramps and fever. READ MORE Waterborne Diseases Waterborne diseases are communicable diseases caused by diseases causing microorganisms in contaminated water. It is more prevalent during floods and in tsunami affected areas. READ MORE Cholera Cholera is an infection of the small intestine and is caused by the bacterium Vibrio cholerae. READ MORE Giardiasis Giardiasis is an infection of the small intestine caused by a parasite called Giardia lamblia . READ MORE Arthrogryposis Arthrogryposis or Arthrogryposis multiplex congenita (AMC) is not a specific diagnosis but a clinical finding of permanent shortening of joints (also termed non-progressive congenital contractures) present at birth. Affected persons have stiff joints and muscle weakness. READ MORE DOOR Syndrome / Rare Genetic Disorder DOOR syndrome is a rare genetic disorder marked by deafness, short or absent fingernails, abnormal development of digits, and intellectual impairment. It is non-progressive and treatment is mainly supportive. READ MORE McArdle Disease McArdle disease is a genetic disorder in which the body cannot breakdown glycogen in the muscles. It also known as McArdle syndrome or Glycogen storage disease type V (GSD-V). READ MORE Most Popular on Medindia How to Reduce School Bag Weight - Simple Tips Pregnancy Confirmation Calculator Diaphragmatic Hernia More News on: McArdle DiseaseArthrogryposisDOOR Syndrome / Rare Genetic Disorder
