Classic Type I and Monogenic Flashcards
How is the HLA complex significant for diabetes?
HLA complex contains genes that contribute to genetic susceptibility to Type 1 Diabetes
Where are HLA complexes and molecules found and what do they do?
. HLA complexes found on chromosome 6
. Genes of HLA complex code for HLA molecules, which are found in cell membrane
. HLA molecules present processed antigens to T-cells
What is the difference between HLA class I and HLA class II molecules?
. HLA class I on nucleated cells . HLA class II on APCs (e.g. dendritic cells or macrophages)
Which haplotypes are present in most children with Type I diabetes?
HLA class II haplotypes
Is the risk of type I diabetes increased or decreased in a child who shares both HLA class II haplocytes with an affected sibling?
Increased risk
What is MODY?
Maturity onset diabetes of the young
inherited, classified as being diagnosed under age of 25
What is another name for MODY?
Monogenic type I diabetes
Name 2 genetic causes of MODY
Heterozygous mutation of glucokinase or transcription factors
What does HLA molecule stand for?
Human Leukocyte Antigen
What kind of disorder is MODY? What is it caused by and what are the consequences?
. Heterozygous disorder
. Caused by mutation in autosomal dominant gene, which disrupts insulin secretion
What is a haplotype?
Set of genetic determinants found on a single chromosome (many children with Type I diabetes have HLA class II haplotypes)