Related Experiment Video
Updated: Apr 23, 2026
08:56
Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
Published on: October 10, 2025
917
[Mitochondrial neurogastrointestinal encephalopathy disease]
A Benureau1, P Meyer2, O Maillet3
1Service de neuropédiatrie, hôpital Gui-de-Chauliac, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France.
Summary
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare genetic disorder. Early MRI is crucial for diagnosing MNGIE in patients with atypical anorexia symptoms, enabling timely nutritional support.
Area of Science:
- Genetics
- Neurology
- Biochemistry
Background:
- Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare, autosomal-recessive disorder caused by mutations in the TYMP gene.
- This genetic defect leads to thymidine phosphorylase (TP) deficiency, causing nucleotide pool imbalance and mitochondrial DNA instability.
Observation:
- A case of a 14-year-old female with MNGIE presenting with chronic vomiting, cachexia, and weight loss is detailed.
- Cerebral MRI revealed white matter abnormalities, prompting MNGIE diagnosis in a patient with atypical anorexia symptoms.
Findings:
- MNGIE presents with gastrointestinal dysmotility, cachexia, ptosis, ophthalmoplegia, peripheral neuropathy, and leukoencephalopathy.
- Diagnosis relies on clinical presentation, genetic testing, and neuroimaging, with MRI being key for atypical anorexia cases.
Implications:
- Early diagnosis through MRI in patients with atypical anorexia is vital for initiating supportive care, including nutritional management.
- While no definitive treatment exists, ongoing research offers hope for future therapeutic strategies for MNGIE.
More Related Videos
Related Concept Videos
01:29Hepatic Encephalopathy
20
DefinitionHepatic encephalopathy is a reversible neurologic syndrome that results from advanced liver dysfunction or portosystemic shunting. It leads to disturbances in cognition, behavior, and motor function due to the brain’s exposure to gut-derived toxins that the liver fails to detoxify.EtiologyThis condition develops either in the setting of acute fulminant hepatitis or progressively during chronic liver disease, such as cirrhosis and portal hypertension. Portosystemic...
20
01:19Encephalitis l: Introduction
7
Encephalitis is inflammation of the brain parenchyma, most often due to infections or autoimmune processes. It presents with neuropsychiatric features such as fever, altered mental status, behavioral changes, cognitive dysfunction, seizures, focal deficits, and sometimes autonomic instability. In some cases, the meninges are also involved, resulting in meningoencephalitis.Infectious CausesInfectious encephalitis is most commonly viral but can also result from bacterial, fungal, or parasitic...
7
01:26Encephalitis ll: Pathophysiology
11
Encephalitis is inflammation of the brain parenchyma caused by direct viral invasion or immune-mediated mechanisms triggered by infections or tumors. Both processes lead to neuronal injury, disrupted neurotransmission, and diverse neurological symptoms, often with overlapping clinical and pathological features.Autoimmune EncephalitisIn autoimmune encephalitis, antibodies target neuronal antigens on cell surfaces, synapses, or within neurons. A key example is anti-NMDAR encephalitis, which can...
11
01:18Viral Meningitis
179
Viral meningitis is the most common form of meningitis and is often referred to as aseptic meningitis to indicate the absence of bacterial involvement. It is generally milder than bacterial meningitis, with symptoms including fever, headache, stiff neck, drowsiness, nausea, photophobia, and vomiting. Rarely, more severe manifestations or death may occur. Common causative agents include enteroviruses, particularly coxsackie A and B viruses and echoviruses, all members of the Enterovirus genus...
179
01:27Esophageal Achalasia
23
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...
23
02:59Animal Mitochondrial Genetics
7.8K
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...
7.8K