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Type 2 Diabetes (MODY (Types (MODY1 - HNF-4A, MODY2 - Glucokinase (not tf)…
Type 2 Diabetes
MODY
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early onset, presentation before 25
Types
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MODY2 - Glucokinase (not tf) - phosphorylates glucose in beta cell for atp, K closing, depol and Ca influx - changes in glucose availavility linked to insulin secretion - stable glucose overtime
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Diabetes
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85% T2D, 10% T1D, 5% other monogenic
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group of metabolic diseases characterised by hyperglycaemia from deficit in insulin action AND/OR secretion
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western sedentary lifestyle and energy-dense diet combined with slow evolving genes which in the past favoured energy conservation
T2D
Genetic Evidence
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familiar segregation no clear pattern - 1 parent risk 40%, 2 parents 70% risk
GWAS
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three highest (TCF7L2, KCNJ11, PPARG), cell signalling, channel and txn regulation 0-6 alleles increases risk not linear
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FTO
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FTO + IRX3/5
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non-risk AATATT regulates IRX3/5, leading to enhanced thermogenesis and fat energy release
risk-associated AACATT blocks ARID5B binding, levels of IRX3/5 increase causing more lipid storage
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Clinical Implication
Prediction
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however may be useful in younger people when environmental factors play less role and less clues from family who may no have developed yet