PMID- 23070563
OWN - NLM
STAT- MEDLINE
DCOM- 20130523
LR  - 20211021
IS  - 1573-6881 (Electronic)
IS  - 0145-479X (Linking)
VI  - 45
IP  - 1-2
DP  - 2013 Feb
TI  - A study of molecular changes relating to energy metabolism and cellular stress in 
      people with Huntington's disease: looking for biomarkers.
PG  - 71-85
LID - 10.1007/s10863-012-9479-3 [doi]
AB  - Huntington's disease (HD) is a neurodegenerative disorder characterized by a 
      progressive motor and cognitive decline and the development of psychiatric 
      symptoms. The origin of molecular and biochemical disturbances in HD is a 
      mutation in the HTT gene, which is autosomally dominantly inherited. The altered 
      huntingtin protein is ubiquitously expressed in the CNS, as well as in peripheral 
      tissues. In this study we measured the metabolism changes in gene transcription 
      in blood of HD gene carriers (premanifest and manifest combined) versus 28 
      healthy controls. The comparison revealed statistically significant Global 
      Pattern Recognition Fold Change (FC) for 6 mRNA transcripts, reflecting an 
      increase of: MAOB (FC = 3.07; p = 0.0005) which encodes an outer mitochondrial 
      membrane-bound enzyme called monoamine oxidase type B; TGM2 (FC = 1.8; p = 0.02) 
      encoding a transglutaminase 2 that mediates cellular stress; SLC2A4 (FC = 1.64; p 
      = 0.02) solute carrier family 2 (facilitated glucose transporter) member 4; 
      branched chain ketoacid dehydrogenase kinase (BCKDK) (FC = 1.34; p = 0.02); 
      decrease of LDHA (FC = -1.16; p = 0.03) lactate dehydrogenase A; and 
      brain-derived neurotrophic factor (BDNF) (FC = -2,11; p = 0.03). These 
      distinguished changes coincided with HD progress. The analyses of gene 
      transcription levels in sub-cohorts confirmed these changes and also revealed 28 
      statistically significant FCs of gene transcripts involved in ATP production and 
      BCAA metabolism.
FAU - Krzyszton-Russjan, Jolanta
AU  - Krzyszton-Russjan J
AD  - Department of Biochemistry and Biopharmaceuticals, National Medicines Institute, 
      Chelmska 30/34 Str., 00-725 Warsaw, Poland. jrussjan@il.waw.pl
FAU - Zielonka, Daniel
AU  - Zielonka D
FAU - Jackiewicz, Joanna
AU  - Jackiewicz J
FAU - Kusmirek, Sylwia
AU  - Kusmirek S
FAU - Bubko, Irena
AU  - Bubko I
FAU - Klimberg, Aneta
AU  - Klimberg A
FAU - Marcinkowski, Jerzy T
AU  - Marcinkowski JT
FAU - Anuszewska, Elzbieta L
AU  - Anuszewska EL
LA  - eng
PT  - Clinical Trial
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20121016
PL  - United States
TA  - J Bioenerg Biomembr
JT  - Journal of bioenergetics and biomembranes
JID - 7701859
RN  - 0 (Biomarkers)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Biomarkers/blood
MH  - *Energy Metabolism
MH  - Female
MH  - *Gene Expression Regulation
MH  - Humans
MH  - Huntington Disease/*blood
MH  - Male
MH  - Middle Aged
MH  - *Transcription, Genetic
EDAT- 2012/10/17 06:00
MHDA- 2013/05/25 06:00
CRDT- 2012/10/17 06:00
PHST- 2012/06/26 00:00 [received]
PHST- 2012/10/04 00:00 [accepted]
PHST- 2012/10/17 06:00 [entrez]
PHST- 2012/10/17 06:00 [pubmed]
PHST- 2013/05/25 06:00 [medline]
AID - 10.1007/s10863-012-9479-3 [doi]
PST - ppublish
SO  - J Bioenerg Biomembr. 2013 Feb;45(1-2):71-85. doi: 10.1007/s10863-012-9479-3. Epub 
      2012 Oct 16.