MOLECULAR STUDY MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (TYMP GENE), SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4296

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	37 days
Information:
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. So far, just under 100 sporadic and familial cases have been reported. The first clinical manifestations generally appear between the ages of 10 and 40 (most often before 20 years of age). The symptoms are progressive and the clinical picture is dominated by severe gastrointestinal disorders (cramping, vomiting, diarrhea, intestinal pseudo-obstruction, dysphagia and gastroparesis) due to abnormal bowel motility. Gastrointestinal disorders gradually progress to chronic pseudo-obstruction leading to cachexia. Neurological involvement includes chronic progressive ophthalmoplegia with or without ptosis, and sensorimotor peripheral neuropathy. Cerebral imaging often reveals subclinical leukodystrophy. Deafness, pigmentary retinopathy, and cerebellar involvement are less frequent findings and are not defining features of the syndrome. Patients are usually thin with short stature. Morphological studies of the muscles reveal the presence of a low proportion of muscle fibers with mitochondrial proliferation (ragged-red fibers) or cytochrome c oxidase deficiency. MNGIE syndrome is inherited in an autosomal recessive manner and is caused by mutations in the TYMP gene (22q13.32-qter), encoding a protein involved in thymidine phosphorylation. These mutations lead to total abolition of enzyme activity, thymidine and deoxyuridine accumulation in body fluids and tissues, and imbalanced mitochondrial DNA replication and repair leading to multiple deletions and sometimes partial depletion.
Links:
OMIM Entry - # 603041 - MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE); MTDPS1
Orphanet- Encefalomiopatía neurogastrointestinal mitocondrial
OMIM Entry - - 131222 - THYMIDINE PHOSPHORYLASE- TYMP

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