Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
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منابع مشابه
Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), an autosomal recessive multiorgan disease, frequently associated with mutations in the thymidine phosphorylase (TYMP) gene. TYMP encodes thymidine phosphorylase (TP), which has an essential role in the nucleotide salvage pathway for mitochondrial DNA (mtDNA) replication. This study reports an MNGIE patient with novel compound hetero...
متن کاملmitochondrial neurogastrointestinal encephalomyopathy (mngie)
mitochondrial neurogastrointestinal encephalo-myopathy (mngie) is a rare autosomal recessive disease caused by thymidine phosphorylase (tp) gene mutation. here we report a patient with mngie in whom sensorimotor polyneuropathy was the first presenting symptom and had a fluctuating course. this 26-year-old female patient developed acute-onset demyelinating polyneuropathy from the age of 6 with t...
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Address for correspondence: İsmail Hakkı Kalkan, MD, Attar Sokak 21/14, Gaziosmanpaşa/ Çankaya 06700, ankara, Turkey, Tel.: +90 505 270 40 85, e-mail: [email protected] Received 13-03-12, Revised 15-06-12, Accepted 02-07-12 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive multisystem disorder caused by mutations in the gene encoding thymidine phos...
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Over the last 15 years, important research has expanded our knowledge of the clinical, molecular genetic, and biochemical features of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). The characterization of mitochondrial involvement in this disorder and the seminal determination of its genetic cause, have opened new possibilities for more detailed and deeper studies on the pathome...
متن کاملMitochondrial deoxynucleotide pools in quiescent fibroblasts: a possible model for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Mitochondrial (mt) DNA depletion syndromes can arise from genetic deficiencies for enzymes of dNTP metabolism, operating either inside or outside mitochondria. MNGIE is caused by the deficiency of cytosolic thymidine phosphorylase that degrades thymidine and deoxyuridine. The extracellular fluid of the patients contains 10-20 microM deoxynucleosides leading to changes in dTTP that may disturb m...
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ژورنال
عنوان ژورنال: Molecular Medicine Reports
سال: 2013
ISSN: 1791-2997,1791-3004
DOI: 10.3892/mmr.2013.1479