PMID- 10590411
OWN - NLM
STAT- MEDLINE
DCOM- 20000120
LR  - 20131121
IS  - 0148-639X (Print)
IS  - 0148-639X (Linking)
VI  - 23
IP  - 1
DP  - 2000 Jan
TI  - Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate
      transport.
PG  - 90-7
AB  - We identified 5 patients with subnormal erythrocyte lactate transport plus
      symptoms and signs of muscle injury on exercise and heat exposure. All had
      transport rates below the 95% envelope for normals. Three cases had rates 40-50% 
      of mean normal. One was found to have a missense mutation in monocarboxylate
      transporter 1 (MCT1), the gene for the red cell lactate transporter (also
      expressed in skeletal muscle), at a conserved site, which was not mutated in a
      cohort of 90 normal humans. The other 2 cases had a different missense mutation
      (at a nonconserved site), which was also not mutated in the normal cohort. All 3 
      patients were heterozygotes. We presume that these mutations are responsible for 
      their subnormal lactate transport, and hence their muscle injury under
      environmental stress; homozygous patients should be more seriously compromised.
      The other 2 cases had lactate transport rates 60-65% of mean normal, and their
      MCT1 revealed a third mutation, which proved to be a common polymorphism in the
      normal cohort. These 2 patients may be physiologic outliers in lactate transport,
      with their muscle damage arising from some other genetic defect.
CI  - Copyright 2000 John Wiley & Sons, Inc.
FAU - Merezhinskaya, N
AU  - Merezhinskaya N
AD  - Biochemical Pathology Division, Environmental Pathology Department, Room M093C,
      Armed Forces Institute of Pathology, Washington, DC 20306-6000, USA.
FAU - Fishbein, W N
AU  - Fishbein WN
FAU - Davis, J I
AU  - Davis JI
FAU - Foellmer, J W
AU  - Foellmer JW
LA  - eng
PT  - Clinical Trial
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Muscle Nerve
JT  - Muscle & nerve
JID - 7803146
RN  - 0 (Carrier Proteins)
RN  - 0 (DNA, Complementary)
RN  - 0 (Monocarboxylic Acid Transporters)
RN  - 0 (RNA, Messenger)
RN  - 33X04XA5AT (Lactic Acid)
SB  - IM
MH  - Adult
MH  - Arm/blood supply
MH  - Biological Transport, Active/genetics
MH  - Carbohydrate Metabolism, Inborn Errors/*genetics
MH  - Carrier Proteins/*genetics
MH  - DNA, Complementary/*genetics
MH  - Electrophoresis, Agar Gel
MH  - Erythrocytes/metabolism
MH  - Humans
MH  - Lactic Acid/*metabolism
MH  - Male
MH  - Middle Aged
MH  - Monocarboxylic Acid Transporters
MH  - Muscle, Skeletal/chemistry
MH  - Mutation/*genetics
MH  - Polymorphism, Single-Stranded Conformational
MH  - RNA, Messenger/biosynthesis/genetics
MH  - Regional Blood Flow/physiology
MH  - Reverse Transcriptase Polymerase Chain Reaction
EDAT- 1999/12/11 00:00
MHDA- 1999/12/11 00:01
CRDT- 1999/12/11 00:00
PHST- 1999/12/11 00:00 [pubmed]
PHST- 1999/12/11 00:01 [medline]
PHST- 1999/12/11 00:00 [entrez]
AID - 10.1002/(SICI)1097-4598(200001)23:1<90::AID-MUS12>3.0.CO;2-M [pii]
PST - ppublish
SO  - Muscle Nerve. 2000 Jan;23(1):90-7.