Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome Maps to Chromosome 22q13.32-qter

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1998 Jul 31

PMID 9683610

Citations 17

Authors

M Hirano

A C Jones

I Nishino

S DiMauro

J R Carlo

A N Bender

A F Hahn

L M Salberg

D E Weeks

T G Nygaard

Affiliations

Soon will be listed here.

Abstract

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome is a rare, multisystem disorder characterized clinically by ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, leukoencephalopathy, thin body habitus, and myopathy. Laboratory studies reveal defects of oxidative-phosphorylation and multiple mtDNA deletions frequently in skeletal muscle. We studied four ethnically distinct families affected with this apparently autosomal recessive disorder. Probands from each family were shown, by Southern blot, to have multiple mtDNA deletions in skeletal muscle. We mapped the MNGIE locus to 22q13.32-qter, distal to D22S1161, with a maximum two-point LOD score of 6.80 at locus D22S526. Cosegregation of MNGIE with a single chromosomal region in families with diverse ethnic backgrounds suggests that we have mapped an important locus for this disorder. We found no evidence to implicate three candidate genes in this region, by using direct sequence analysis for DNA helicase II and by assaying enzyme activities for arylsulfatase A and carnitine palmitoyltransferase.

Citing Articles

Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far.

Pacitti D, Levene M, Garone C, Nirmalananthan N, Bax B Front Genet. 2019; 9:669.

PMID: 30627136 PMC: 6309918. DOI: 10.3389/fgene.2018.00669.

Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria.

Matic S, Jiang M, Nicholls T, Uhler J, Dirksen-Schwanenland C, Loguercio Polosa P Nat Commun. 2018; 9(1):1202.

PMID: 29572490 PMC: 5865154. DOI: 10.1038/s41467-018-03552-x.

Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy.

Torres-Torronteras J, Cabrera-Perez R, Vila-Julia F, Viscomi C, Camara Y, Hirano M Hum Gene Ther. 2017; 29(6):708-718.

PMID: 29284302 PMC: 7647931. DOI: 10.1089/hum.2017.133.

Transient clinical improvement of a mitochondrial neurogastrointestinal encephalomyopathy-like syndrome after allogeneic haematopoietic stem cell transplantation.

Baker M, Schutte C, Ranchhod N, Brittain D, van Rensburg J BMJ Case Rep. 2017; 2017.

PMID: 28765176 PMC: 5612346. DOI: 10.1136/bcr-2016-218276.

MtDNA-maintenance defects: syndromes and genes.

Viscomi C, Zeviani M J Inherit Metab Dis. 2017; 40(4):587-599.

PMID: 28324239 PMC: 5500664. DOI: 10.1007/s10545-017-0027-5.

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