Related Experiment Video
Updated: Jan 22, 2026
08:55
The Colon-26 Carcinoma Tumor-bearing Mouse as a Model for the Study of Cancer Cachexia
Published on: November 30, 2016
17.1K
[Fatal cachexia caused by mitochondrial neuro-gastro-intestinal encephalomyopathy]
Christina Engel Hoei-Hansen1, David Scheie, Eva Loebner Lund
1chh@dadlnet.dk.
Ugeskrift for Laeger
|July 4, 2019
Summary
Mitochondrial neuro-gastro-intestinal encephalo-myopathy (MNGIE) is a rare condition. A TYMP mutation caused severe symptoms and rapid progression in a young man, highlighting the need for early diagnosis.
Area of Science:
- Neurology
- Genetics
- Gastroenterology
Background:
- Mitochondrial neuro-gastro-intestinal encephalo-myopathy (MNGIE) is a rare, severe genetic disorder.
- It is characterized by progressive multi-systemic dysfunction, often affecting the nervous system and gastrointestinal tract.
Observation:
- A case report details a 23-year-old male with malnutrition and pseudo-obstruction.
- Clinical presentation included external ophthalmoplegia, muscle atrophy, and demyelinating neuropathy.
- MRI revealed symmetrical white matter lesions, and muscle biopsy showed atrophic fibers.
Findings:
- Genetic analysis identified a TYMP mutation, confirming the diagnosis of MNGIE.
- The patient experienced a rapidly fatal disease course.
- This case underscores the severity and rapid progression of MNGIE.
Implications:
- MNGIE is rare and frequently overlooked in clinical practice.
- Early diagnosis is crucial for potential interventions.
- Stem cell transplantation may correct thymidine phosphorylase deficiency in early-stage MNGIE.
More Related Videos
08:56Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
Published on: October 10, 2025
649
07:24Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
1.9K
Related Concept Videos
02:59Animal Mitochondrial Genetics
9.0K
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...
9.0K
02:19Export of Mitochondrial and Chloroplast Genes
4.1K
A eukaryotic cell can have up to three different types of genetic systems: nuclear, mitochondrial, and chloroplast. During evolution, organelles have exported many genes to the nucleus; this transfer is still ongoing in some plant species. Approximately 18% of the Arabidopsis thaliana nuclear genome is thought to be derived from the chloroplast’s cyanobacterial ancestor, and around 75% of the yeast genome derived from the mitochondria’s bacterial ancestor. This export has occurred...
4.1K
01:23Anatomy of the Intestines
87.0K
Although digestion of proteins, carbohydrates, and lipids may begin in the stomach, it is completed in the intestine. The absorption of nutrients, water, and electrolytes from food and drink also occurs in the intestine. The intestines can be divided into two structurally distinct organs—the small and large intestines.
Small Intestines
The small intestine is an ~7 meter-long tube with an inner diameter of just 2.5 cm. Since most nutrients are absorbed here, the inner lining of the...
Small Intestines
The small intestine is an ~7 meter-long tube with an inner diameter of just 2.5 cm. Since most nutrients are absorbed here, the inner lining of the...
87.0K
02:16Comparing Mitochondrial, Chloroplast, and Prokaryotic Genomes
15.3K
The present-day mitochondrial and chloroplast genomes have retained some of the characteristics of their ancestral prokaryotes and also have acquired new attributes during their evolution within eukaryotic cells. Like prokaryotic genomes, mitochondrial and chloroplast genomes neither bind with histone-like proteins nor show complex packaging into chromosome-like structures, as observed in eukaryotes. Unlike mitotic cell divisions observed in eukaryotic cells, mitochondria and chloroplasts...
15.3K
01:28The Inner Mitochondrial Membrane
4.6K
The inner mitochondrial membrane is the primary site of ATP synthesis. The inner membrane domain that forms a smooth layer adjacent to the outer membrane is called the inner boundary membrane. This domain contains membrane transporters that drive metabolites in and out of the mitochondria. In contrast, the inner membrane network that invaginates into the matrix space is called the cristae membrane. This domain accounts for principle mitochondrial function as it accommodates the protein...
4.6K
01:15Small Intestine
3.7K
The small intestine is primarily responsible for digestion and nutrient absorption. It spans from the pyloric sphincter to the ileocecal valve and connects to the large intestine.
The small intestine is divided into three main sections - the duodenum, jejunum, and ileum. The duodenum, approximately 25 cm long, is nearest the stomach. It acts as a 'mixing bowl,' where chyme (partially digested food) blends with digestive enzymes from the pancreas and liver. The duodenum's unique...
The small intestine is divided into three main sections - the duodenum, jejunum, and ileum. The duodenum, approximately 25 cm long, is nearest the stomach. It acts as a 'mixing bowl,' where chyme (partially digested food) blends with digestive enzymes from the pancreas and liver. The duodenum's unique...
3.7K