Related Experiment Video
Updated: Aug 23, 2025
06:41
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
13.8K
DGAT1 mutation in two sisters with failure to thrive: a case report
M Agustina Valentini1, Valeria A Fedrizzi1, Andrea G Krochik2
1Intermediate-Medium Care Unit; Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, City of Buenos Aires, Argentina.
Archivos Argentinos De Pediatria
|October 31, 2022
Summary
Congenital diarrhea caused by diacylglycerol O-acyltransferase 1 (DGAT1) gene mutations is rare. This study identifies a novel Latin American case of DGAT1 deficiency in two sisters, expanding knowledge of this genetic enteropathy.
Area of Science:
- Genetics
- Pediatric Gastroenterology
- Molecular Biology
Background:
- Congenital diarrhea and enteropathies (CODEs) represent a group of rare monogenic disorders.
- Diacylglycerol O-acyltransferase 1 (DGAT1) gene mutations cause a rare enzyme disorder leading to severe, early-onset chronic diarrhea.
Observation:
- Two sisters presented with chronic diarrhea, vomiting, growth retardation, and hypoalbuminemia in early childhood.
- Both patients were diagnosed with a compound heterozygous DGAT1 mutation.
Findings:
- The identified DGAT1 mutation, previously documented in Asian populations, is reported for the first time in Latin American patients.
- This finding highlights the genetic diversity and geographic spread of DGAT1 mutations.
Implications:
- These cases contribute to a broader understanding of congenital diarrhea and DGAT1-related enteropathies.
- Further research into DGAT1 mutations can improve diagnosis and management strategies for affected children globally.
Related Concept Videos
01:27Glucose Transporters
24.0K
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
24.0K
01:20Inborn Errors of Metabolism
224
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...
224
01:43Incomplete Dominance
25.3K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
25.3K
02:41Lethal Alleles
15.6K
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...
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...
15.6K
01:31Translation
142.9K
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
142.9K
02:59Animal Mitochondrial Genetics
7.9K
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
7.9K