PMID- 11095989
OWN - NLM
STAT- MEDLINE
DCOM- 20010104
LR  - 20131121
IS  - 0006-291X (Print)
IS  - 0006-291X (Linking)
VI  - 278
IP  - 3
DP  - 2000 Nov 30
TI  - A patient with type 2 diabetes mellitus associated with mutations in calcium 
      sensing receptor gene and mitochondrial DNA.
PG  - 808-13
AB  - A 44-year-old female with familial hypocalciuric hypercalcemia (FHH) due to a 
      homozygous missense mutation (Pro40Ala) in calcium sensing receptor (CaSR) gene 
      has type 2 diabetes mellitus. The identical heterozygous mutation of CaSR gene 
      was observed in consanguineous parents and all other family members examined 
      except her two sisters. Many subjects with abnormal glucose tolerance were 
      observed in this family, which is compatible with maternal inheritance. 
      Mitochondrial function of complex I (NADH-coenzyme Q reductase) activity in 
      cybrid cells between mitochondrial DNA (mtDNA)-deleted (rho(0)) HeLa cells and 
      mtDNA from the proband was decreased by 35%. The proband has eight substitutions 
      and among these 4833 A/G is a missense substitution in NADH dehydrogenase 2 gene 
      and may probably be a major pathogenic mutation of impaired complex I activity. 
      These results suggest that coexistence of nuclear gene and mtDNA mutations may 
      have caused or modified the development of abnormal glucose tolerance in this 
      family.
CI  - Copyright 2000 Academic Press.
FAU - Ohkubo, E
AU  - Ohkubo E
AD  - Third Department of Internal Medicine, Yamanashi Medical University, Tamaho, 
      Yamanashi, 409-3898, Japan.
FAU - Aida, K
AU  - Aida K
FAU - Chen, J
AU  - Chen J
FAU - Hayashi, J I
AU  - Hayashi JI
FAU - Isobe, K
AU  - Isobe K
FAU - Tawata, M
AU  - Tawata M
FAU - Onaya, T
AU  - Onaya T
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Biochem Biophys Res Commun
JT  - Biochemical and biophysical research communications
JID - 0372516
RN  - 0 (DNA, Mitochondrial)
RN  - 0 (Receptors, Calcium-Sensing)
RN  - 0 (Receptors, Cell Surface)
RN  - 0 (extracellular calcium cation-sensing receptor, rat)
RN  - SY7Q814VUP (Calcium)
SB  - IM
MH  - Adult
MH  - Animals
MH  - Calcium/metabolism
MH  - DNA, Mitochondrial/*genetics
MH  - Diabetes Mellitus, Type 2/complications/*genetics
MH  - Female
MH  - Homozygote
MH  - Humans
MH  - Hypercalcemia/complications/genetics
MH  - Islets of Langerhans/cytology/metabolism
MH  - *Mutation, Missense
MH  - Pedigree
MH  - Rats
MH  - Receptors, Calcium-Sensing
MH  - Receptors, Cell Surface/analysis/*genetics
EDAT- 2000/11/30 11:00
MHDA- 2001/02/28 10:01
CRDT- 2000/11/30 11:00
PHST- 2000/11/30 11:00 [pubmed]
PHST- 2001/02/28 10:01 [medline]
PHST- 2000/11/30 11:00 [entrez]
AID - S0006-291X(00)93867-1 [pii]
AID - 10.1006/bbrc.2000.3867 [doi]
PST - ppublish
SO  - Biochem Biophys Res Commun. 2000 Nov 30;278(3):808-13. doi: 
      10.1006/bbrc.2000.3867.