Trinucleotide repeat expansion in the β1 subunit of the sodium pump in manic-depression illness: A negative study

Rena Li, Rif S. El-Mallakh, Mary M. Herman, Joel Kleinman

Research output: Contribution to journalArticle

Abstract

Background: Trinucleotide repeats have become a recognized molecular abnormality in a variety of neuropsychiatric conditions. Bipolar illness has been purported to be a possible trinucleotide repeat-associated disease. Since abnormalities in the expression and regulation of the sodium- and potassium-activated adenosine triphosphatase (Na,K-ATPase) have been documented in bipolar patients and since the β1 subunit of this pump contains a heterogenous GCC repeat, we decided to investigate the possibility of a repeat expansion in β1 subunit of Na,K-ATPase in bipolar patients. Methods: DNA from postmortem temporal cerebral cortex tissue of five bipolar subjects and five matched normal controls and five lyumphoblastoid cells lines from the Old Order Amish bipolar pedigrees and match normal controls were used for this study. The GCC rich region of β1 DNA was amplified by polymerase chain reaction (PCR) and sequenced. Results: The range of GCC repeat in the β1 gene is between 7 and 9 in our population. This is not different in bipolar patients from normal controls. Limitations: This study examined a small number of patients and examined a very limited portion of the locus. Conclusion: It appears that there is not an expansion of the GCC repeat in the β1 gene in bipolar patients. (C) 2000 Elsevier Science B.V.

Original languageEnglish (US)
Pages (from-to)131-136
Number of pages6
JournalJournal of Affective Disorders
Volume60
Issue number2
DOIs
StatePublished - Nov 2000
Externally publishedYes

Fingerprint

Trinucleotide Repeat Expansion
Sodium-Potassium-Exchanging ATPase
Trinucleotide Repeats
Amish
DNA
Temporal Lobe
Pedigree
Cerebral Cortex
Genes
Cell Line
Polymerase Chain Reaction
Population

Keywords

  • β1 Subunit
  • Na,K-ATPase
  • Trinucleotide

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Behavioral Neuroscience
  • Biological Psychiatry
  • Neurology
  • Psychology(all)

Cite this

Trinucleotide repeat expansion in the β1 subunit of the sodium pump in manic-depression illness : A negative study. / Li, Rena; El-Mallakh, Rif S.; Herman, Mary M.; Kleinman, Joel.

In: Journal of Affective Disorders, Vol. 60, No. 2, 11.2000, p. 131-136.

Research output: Contribution to journalArticle

@article{fbf395bd512d4b1b96f868319fca7f51,
title = "Trinucleotide repeat expansion in the β1 subunit of the sodium pump in manic-depression illness: A negative study",
abstract = "Background: Trinucleotide repeats have become a recognized molecular abnormality in a variety of neuropsychiatric conditions. Bipolar illness has been purported to be a possible trinucleotide repeat-associated disease. Since abnormalities in the expression and regulation of the sodium- and potassium-activated adenosine triphosphatase (Na,K-ATPase) have been documented in bipolar patients and since the β1 subunit of this pump contains a heterogenous GCC repeat, we decided to investigate the possibility of a repeat expansion in β1 subunit of Na,K-ATPase in bipolar patients. Methods: DNA from postmortem temporal cerebral cortex tissue of five bipolar subjects and five matched normal controls and five lyumphoblastoid cells lines from the Old Order Amish bipolar pedigrees and match normal controls were used for this study. The GCC rich region of β1 DNA was amplified by polymerase chain reaction (PCR) and sequenced. Results: The range of GCC repeat in the β1 gene is between 7 and 9 in our population. This is not different in bipolar patients from normal controls. Limitations: This study examined a small number of patients and examined a very limited portion of the locus. Conclusion: It appears that there is not an expansion of the GCC repeat in the β1 gene in bipolar patients. (C) 2000 Elsevier Science B.V.",
keywords = "β1 Subunit, Na,K-ATPase, Trinucleotide",
author = "Rena Li and El-Mallakh, {Rif S.} and Herman, {Mary M.} and Joel Kleinman",
year = "2000",
month = "11",
doi = "10.1016/S0165-0327(99)00170-6",
language = "English (US)",
volume = "60",
pages = "131--136",
journal = "Journal of Affective Disorders",
issn = "0165-0327",
publisher = "Elsevier",
number = "2",

}

TY - JOUR

T1 - Trinucleotide repeat expansion in the β1 subunit of the sodium pump in manic-depression illness

T2 - A negative study

AU - Li, Rena

AU - El-Mallakh, Rif S.

AU - Herman, Mary M.

AU - Kleinman, Joel

PY - 2000/11

Y1 - 2000/11

N2 - Background: Trinucleotide repeats have become a recognized molecular abnormality in a variety of neuropsychiatric conditions. Bipolar illness has been purported to be a possible trinucleotide repeat-associated disease. Since abnormalities in the expression and regulation of the sodium- and potassium-activated adenosine triphosphatase (Na,K-ATPase) have been documented in bipolar patients and since the β1 subunit of this pump contains a heterogenous GCC repeat, we decided to investigate the possibility of a repeat expansion in β1 subunit of Na,K-ATPase in bipolar patients. Methods: DNA from postmortem temporal cerebral cortex tissue of five bipolar subjects and five matched normal controls and five lyumphoblastoid cells lines from the Old Order Amish bipolar pedigrees and match normal controls were used for this study. The GCC rich region of β1 DNA was amplified by polymerase chain reaction (PCR) and sequenced. Results: The range of GCC repeat in the β1 gene is between 7 and 9 in our population. This is not different in bipolar patients from normal controls. Limitations: This study examined a small number of patients and examined a very limited portion of the locus. Conclusion: It appears that there is not an expansion of the GCC repeat in the β1 gene in bipolar patients. (C) 2000 Elsevier Science B.V.

AB - Background: Trinucleotide repeats have become a recognized molecular abnormality in a variety of neuropsychiatric conditions. Bipolar illness has been purported to be a possible trinucleotide repeat-associated disease. Since abnormalities in the expression and regulation of the sodium- and potassium-activated adenosine triphosphatase (Na,K-ATPase) have been documented in bipolar patients and since the β1 subunit of this pump contains a heterogenous GCC repeat, we decided to investigate the possibility of a repeat expansion in β1 subunit of Na,K-ATPase in bipolar patients. Methods: DNA from postmortem temporal cerebral cortex tissue of five bipolar subjects and five matched normal controls and five lyumphoblastoid cells lines from the Old Order Amish bipolar pedigrees and match normal controls were used for this study. The GCC rich region of β1 DNA was amplified by polymerase chain reaction (PCR) and sequenced. Results: The range of GCC repeat in the β1 gene is between 7 and 9 in our population. This is not different in bipolar patients from normal controls. Limitations: This study examined a small number of patients and examined a very limited portion of the locus. Conclusion: It appears that there is not an expansion of the GCC repeat in the β1 gene in bipolar patients. (C) 2000 Elsevier Science B.V.

KW - β1 Subunit

KW - Na,K-ATPase

KW - Trinucleotide

UR - http://www.scopus.com/inward/record.url?scp=0033850593&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033850593&partnerID=8YFLogxK

U2 - 10.1016/S0165-0327(99)00170-6

DO - 10.1016/S0165-0327(99)00170-6

M3 - Article

C2 - 10967372

AN - SCOPUS:0033850593

VL - 60

SP - 131

EP - 136

JO - Journal of Affective Disorders

JF - Journal of Affective Disorders

SN - 0165-0327

IS - 2

ER -