Linked Life Data

8732719

Source:http://linkedlifedata.com/resource/pubmed/id/8732719

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1996-9-20
pubmed:abstractText
Recently, subtypes of typical NIDDM were suggested based on missense mutations of mitochondrial DNA [tRNALeu(UUR)] and the glucagon receptor gene (Gly40Ser). Together these mutations might explain NIDDM in 5--8% of patients. To test the hypothesis that these mutations play an important role in a Northern European population with a strong family history of diabetes, we screened members of 45 families selected for having two or more diabetic siblings and 62 additional unrelated diabetic individuals for both mutations. We also examined 74 nondiabetic control subjects. Mitochondrial DNA mutations were not detected despite our ability to detect as little as 3% heteroplasmy in a sample from an individual known to carry the mutation. Likewise, the glucagon receptor Gly40Ser mutation was present in a single diabetic patient who on subsequent investigation was of Italian descent. Thus, neither subtype of NIDDM is present in the Utah diabetic population, which is reflective of other Northern European populations.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0149-5992
pubmed:author
pubmed:issnType
Print
pubmed:volume
19
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
507-8
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Role of mitochondrial DNA tRNA leucine and glucagon receptor missense mutations in Utah white diabetic patients.
pubmed:affiliation
Division of Endocrinology, Metabolism, and Diabetes, Veterans Affairs Medical Center, Salt Lake City, Utah 84148, USA. elbein/msscc.med.utah.edu
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, U.S. Gov't, Non-P.H.S., Research Support, Non-U.S. Gov't