Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

1119 words (4 pages) Essay in Medical

08/02/20 Medical Reference this

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Mitochondrial Neurogastrointestinal Encephalopathy Syndrome (MNGIE) affects the intestines and the nervous system. This disease usually starts in early adulthood. Mutations occur in a specific gene, where enzymes are being produced. In the absence of this enzyme, thymidine phosphorylase, the mitochondrial DNA is damaged. This disease is extremely rare and tends to be misdiagnosed, it doesn’t discriminate based on race, gender, country, or region.

The two most thorough sources detailing all the aspects of this disease are the U.S National Library of Medicine (1) and the National Organization for Rare Diseases (2). Plus/one (3) is a journal detailing the overall abstract of MNGIE. U.S National Library of Medicine National Institutes of Health (4) and Frontiers in Genetics (5) are articles about MNGIE which talk about the abstract and the TYMP mutation in depth.

The Mitochondrial Neurogastrointestinal Encephalopathy Syndrome is a disease which usually takes place in the digestive system and the nervous system. This disease can occur from a young age to older age. People tend to get diagnosed with this disease around the age of twenty. Over time this disease gets more and more harmful towards these patients. A large proportion of the patients have a symptom called gastrointestinal dysmotility. The consequences of this symptom are the muscles which are located in the digestive system do not move the food in the intestines fast enough. This leads to the patient feeling ill, vomiting, having a hard time swallowing, diarrhea, and stomach rubbing. Due to these symptoms, excessive weight loss and muscle loss occurs (1).

Doctors treat the symptoms, with medication such as physical therapy, pain therapy, drug therapy, and parenteral feeding. Many patients who have MNGIE can possibly get gastrointestinal symptom. People who have this symptom tend to have a bacterial overgrowth in their stomach. There is a famous neurological symptom of this disorder which makes a humans eyelid droop down and excessive hearing loss, which is due to peripheral neuropathy. The main symptom of the disorder is muscle dysfunction which means that the muscle does not function normally, which can lead to no control over a specific muscle. (4) (5)

As previously mentioned, MNGIE is caused by mutations which are found in a specific gene which produces the enzyme thymidine phosphorylase. When 80-90% of the mitochondria are mutated, phenotypic attributes of MNGIE appear. Two things cause the quick manifestation of the heterogeneous phenotype. One is the threshold effect and the other cause is two mitochondrial genotypes are located in the same cell (5). However, it is an uncommon occurrence because it is a recessive genetic disorder. Recessive genetic disorders are rare because they need to be passed down by both the mother and the father. Both parents need to pass on an abnormal gene for the disorder or disease to develop (2).

There have been fewer than 200 cases of people having this disorder. This disorder is considered an autosomal recessive disorder. The patient diagnosed with this disorder would have to have parents carrying one copy of a mutated gene. The symptoms associated with this disorder are different for each case. MNGIE is caused by mutations and is inherited as an autosomal trait. MNGIE is a disorder that is almost nowhere to be found. It affects males and females in equal numbers. According to studies done in 2011, MNGIE was first described in 1976 as congenital oculoskeletal myopathy with symptoms of abnormal muscle and liver mitochondria. MNGIE is distributed in populations including Western Europeans, Jamaicans, Jewish, Middle Eastern, Americans, Canadians, and South America. The average age of death with people who have this disease is 38 years of age. (2)

There was a case reported of a 24 year old Caucasian patient with an incomplete MNGIE phenotype. The patient also had a disruptive TYMP mutation that was never seen before. The patient had been having symptoms such as vomiting and gastrointestinal dysmotility with constant issues of diarrhea and constipation that contributed to increasing weight loss over the years. He had severe weakness and numbness in the extremities of all 4 limbs. They conducted neurological evaluations, and the results showed absence of deep tendon reflexes, length-dependent decreased proprioception and vibratory sensation, mild generalized weakness and diffuse muscle atrophy. (5)

Mutations that occur where energy is released in a cell are the fundamental connection between mitochondrial disorders disorders. Doctors diagnose MNGIE using a patient’s medical history, symptoms such as vomiting, diarrhea, etc, and lastly blood and other tests. (3)

In conclusion, this research shows how rare and complicated the mitochondrial neurogastrointestinal encephalopathy syndrome is. There have only been fewer than 200 cases published about this disorder and it is highly diverse, having been found in many countries around the globe. Scientists have not yet been able to find a cure for MNGIE since it was discovered only in 1976. This makes it very complicated to understand. It is difficult for doctors to treat this disease only by curing the symptoms of MNGIE. Expectations would be that scientists would be able to find a cure for the disease itself. Unfortunately, it most likely won’t get the attention that is needed for these patients to live a better life. If this disease gets more publicity, people can be more familiar with the disease and how they can contribute, for example by donating. In the meantime, doctors can find better treatments to help these patients to better manage their symptoms and delay the inevitable. Improvements in therapies could increase life expectancy and allow patients to live fuller lives.

Cited Sources

  1. “MNGIE Disease – Genetics Home Reference – NIH.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease.
  2. “Mitochondrial Neurogastrointestinal Encephalopathy.” NORD (National Organization for Rare Disorders), rarediseases.org/rare-diseases/mitochondrial-neurogastrointestinal-encephalopathy/#affected-populations.
  3. Boschetti, Elisa, et al. “Liver as a Source for Thymidine Phosphorylase Replacement in Mitochondrial Neurogastrointestinal Encephalomyopathy.” PLOS ONE, Public Library of Science, journals.plos.org/plosone/article?id=10.1371%2Fjournal.pone.0096692.
  4. Hirano, Michio, et al. “CoQ(10) Deficiencies and MNGIE: Two Treatable Mitochondrial Disorders.” Biochimica Et Biophysica Acta, U.S. National Library of Medicine, May 2012, www.ncbi.nlm.nih.gov/pmc/articles/PMC3319470/.
  5. Pacitti, et al. “Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far.” Frontiers, Frontiers, 4 Dec. 2018, www.frontiersin.org/articles/10.3389/fgene.2018.00669/full.
  6. Both images/graphs come from source (1) “MNGIE Disease – Genetics Home Reference – NIH.” U.S. National Library of Medicine, National Institutes of Health,ghr.nlm.nih.gov/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease.
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