Gastric dysmotility associated with accumulation of mitochondrial A3243G mutation in the stomach.
OBJECTIVE
We analyzed the accumulation of a mitochondrial A-to-G mutation at nucleotide position 3243 (A3243G) in the stomach and gastric motility in patients with gastric symptoms, post-prandial nausea/vomiting and epigastralgia.


METHODS
Detection and quantification of A3243G mutation in mtDNA in the gastric mucosa, oral mucosa, leukocyte, and skeletal muscle were performed. Gastric motility was evaluated by gastric myoelectrical activity on electrogastrography (EGG), and gastric emptying was evaluated by measurement of plasma paracetamol concentration before and after meals.


METHODS
Four patients with A3243G mutation in the leukocyte mtDNA and gastric symptoms were examined.


RESULTS
The A3243G mutation was detected at higher percentages in the gastric body (69-94% for mutation; mean, 83%) than in the angle portion (37-82%; mean, 52%), the antrum (40-84%; mean, 57%) or leukocytes (28-52%; mean, 39%), and at slightly higher percentages than in the skeletal muscles (45-87%; mean, 70%) or oral mucosae (52-86%; mean, 69%) in the four patients examined. Abnormal EGGs were observed in the three patients examined. The pre-prandial myoelectrical activities were low in these patients (49% in patient 1, 54% in patient 2, 63% in patient 3; normal >70%). The plasma concentrations of paracetamol were low (3.6 microg/ml in patient 1, 2.4 microg/ml in patient 2, <2.0 microg/ml in patient 3; normal, 7-12 microg/ml).


CONCLUSIONS
Accumulation of mitochondrial A3243G mutation in the stomach is a contributory factor in gastric dysmotility and gastric symptoms in patients with the mutation in their leukocytes.
Fujii
Akihiro
A
Second Department of Internal Medicine, Faculty of Medical Sciences, University of Fukui, Matsuoka, Fukui.
Yoneda
Makoto
M
Ohtani
Masahiro
M
Nakagawa
Hiroto
H
Kumano
Takanori
T
Hayashi
Koji
K
Muramatsu
Atsushi
A
Takabatake
Satoru
S
Ibi
Tohru
T
Sahashi
Ko
K
Azuma
Takeshi
T
Kuriyama
Masaru
M
D000328:Adult; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005746:Gastric Emptying; D005769:Gastrointestinal Motility; D006801:Humans; D008297:Male; D008875:Middle Aged; D016065:Myoelectric Complex, Migrating; D017354:Point Mutation; D013270:Stomach / Q000503:physiopathology; D013272:Stomach Diseases / Q000235:genetics* / Q000503:physiopathology
D004272:DNA, Mitochondrial