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MD1 Metabolism > The Genetics of Metabolic Diseases > Flashcards

The Genetics of Metabolic Diseases Flashcards

1
Q

What are the most common rare metabolic disorders in Australia?

A

PKU
Mitochondrial disorders
Lysosomal storage disorders
Haemochromatosis

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2
Q

What is haemochromatosis?

A

Inability to clear Fe from body > Fe overload

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3
Q

How do you treat PKU?

A

Limit Phe intake

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4
Q

How do you treat galactosaemia?

A

Limit lactos and galactose in diet

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5
Q

How do you treat urea cycle disease?

A

Limit protein

Medication to remove ammonia from blood

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6
Q

How do you treat lysosomal storage diseases?

A

Symptomatic treatment

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7
Q

What is maturity onset diabetes of the young (MODY)?

A

1% of diabetes cases
Monogenic - 11 known genes
Pancreatic cell dysfunction
Often misdiagnosed

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8
Q

What is gestational diabetes?

A

Developed whilst pregnant

Implications for future glucose regulation of mother and baby

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9
Q

What is the inheritance pattern of MODY?

A

Autosomal dominant

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10
Q

When is the typical onset of MODY?

A

6 months-35 years

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11
Q

Is there variation in the phenotype of MODY?

A

Yes - can be sub-symptomatic

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12
Q

What are the symptoms of MODY?

A

Hyperglycaemia
Polyuria
Polydipsia
OR no signs of symptoms but high glucose during screening
OR diagnosed through mild hyperglycaemia during testing in pregnancy

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13
Q

What is the penetrance of MODY?

A

40-90%

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14
Q

What do the genes affected in MODY do?

A

Control development and/or function of pancreas
Control expression of insulin gene
Involved in glucose metabolic pathways

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15
Q

What are the three most common genes affected in MODY?

A

HNF4a
GCK
HNF1a

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16
Q

What are HNF4a and HNF1a?

A

Transcription factors

17
Q

What does HNF4a do?

A

Control expression of HNF1a

18
Q

What does HNF1a do?

A

Control expression of genes in liver

19
Q

What is the protein product of GCK?

A

Glucokinase

20
Q

Where is glucokinase expressed?

A

Hepatocytes

Pancreatic beta cells

21
Q

How does the enzyme activity of glucokinase change with glucose concentration?

A

Changes depending on amount of glucose = glucose sensor

22
Q

How does glucokinase act as a glucose sensor in the beta pancreatic cell?

A
  1. Glucose enters cell via GLUT2
  2. Glucose used to make ATP
  3. Increased ATP inhibits ATP-gated K channel
  4. Membrane depolarises
  5. Voltage-gated Ca channel opens > Ca influx
  6. Secretion of insulin
23
Q

What do heterozygotes for a GCK deficiency have?

A

Altered glucose sensing in pancreas
Long-term mild hyperglycaemia
- Often mild enough not to require treatment

24
Q

Is insulin always the best treatment for MODY?

A

No, often oral agents may be better

25
Q

How are people with MODY different to those who have type 1 or 2 diabetes?

A

No autoAbs
No obesity
No insulin resistance
Close relative with similar symptoms/cystic kidney disease

26
Q

What is the heritability of type 1 diabetes?

A

About 80%

27
Q

What is the purpose of large-scale genetic studies?

A

Discover common and rare variants contributing to disease
Asking whether variants disease-informative
Effect of variants
Can they guide preventative/therapeutic interventions

28
Q

What parts of the region are shown in genome wide association studies (GWAS)?

A

Only large regions

29
Q

Are some variants associated with type 1 diabetes also associated with other diseases?

A

Yes, some positively associated with other autoimmune diseases
Others protective against other diseases; eg: Crohn’s disease

30
Q

What are the two types of type 1 diabetes risk associated genes?

A

Pancreas related

Immune related

31
Q

How can insulin gene and HLA variants alter the risk of type 1 diabetes?

A

Altering presentation of insulin fragments during

  • Central tolerance
  • Development of disease
32
Q

What are the environmental factors in type 2 diabetes?

A

Obesity
Sedentary lifestyle
Unhealthy eating
Hypertension

33
Q

What do many type 2 diabetes risk associated genes act through?

A

Reduced beta cell function/mass

Most cases changes in gene in expression level/activity, not loss of function

34
Q

Susceptibility to what increases the risk of type 2 diabetes?

A

Peripheral insulin resistance

35
Q

Does transgenerational epigenetic inheritance have an effect in type 2 diabetes?

A

Yes, could affect metabolism, thus altering risk of developing type 2 diabetes, but difficult to prove in humans

MD1 Metabolism (18 decks)

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