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Brain Disorders > MDT1 > Flashcards

MDT1 Flashcards

1
Q

Muscular dystrophies

A

Encompass a range of disorders involving muscle weakness

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2
Q

Myotonic dystrophy type 1 (DM1)

A

Also known as Steinert’s disease
Progressive
Multisystemic disease

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3
Q

Systems affected in DM1

A

Muscle
Nervous system
Endocrine
Respiratory
Immune
Skeletal muscle
Reproductive systems
GIT

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4
Q

Autosomal dominant disorder characterised by…..

A

Myotonia
Inability to relax muscles following contraction
Uncontrolled muscle contraction including cardiac muscle
Respiratory changes

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5
Q

Early death caused by

A

Cardiorespiratory failure

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6
Q

Cognitive changes associated with DM1

A

Apathy, OCD, autistic-like traits

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7
Q

DM1 affects…

A

1 in 8000 people
Most common adult form of muscular dystrophy

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8
Q

Common symptoms

A

Drooping face and neck muscles
Difficulty swallowing
Cataracts
Weight loss
Symptoms vary throughout disease progression

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9
Q

DM1 occurs as a result of

A

CTG repeat length expansion in the DMPK gene

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10
Q

Meola and Cardani

A

Devised ranking system based on number of DMPK repeat lengths and age of onset in order to predict disease severity

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11
Q

Congential DM1

A

Typically results in repeat lengths of more than 1000 trinucleotides
Not considered most severe
CTG repeats increase during life in correlation with DM1 symptoms

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12
Q

Childhood onset (1-10 yo)

A

50-1000 repeats
Often not diagnosed with DM1

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13
Q

Common age of diagnosis

A

10-30 yo

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14
Q

Late onset (20-70 yo)

A

Mild dystonia
50-100 repeat lengths

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15
Q

Full length (85kDa) DMPK

A

Nuclear envelope stability
Lipid bilayer enclosing eukaryotic nucleus

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16
Q

Nuclear pores

A

Allow genetic material to pass from one side to other

17
Q

Role of nuclear envelope

A

Important for nuclear structure
Gene regulation
Muscle function

18
Q

Disturbances in nuclear envelope caused by

A

Depletion or overexpression of DMPK

19
Q

Instability in nuclear envelope may contribute to

A

Skeletal muscle wasting in DM1

20
Q

Epigenetic changes in DMPK DNA locus

A

Methylation of CTCF1 region linked to repeat length and disease severity

21
Q

Repeat length expansion of DMPK gene in DM1 results in

A

Splicing defects which may be central to disease progression

22
Q

In healthy individuals, RNA binding proteins (RBPs) involved in:

A

DNA repair
Transcription regulation
Cellular processes (apoptosis)

23
Q

In DM, RBPs such as MBNL and CELF proteins

A

Participate in pre mRNA transcription and maturation

24
Q

mRNA length expansion copies in DM1

A

Block nuclear pores of membrane leading to accumulation and trapping of proteins preventing optimal protein synthesis and expression

25
Q

Consequence of nuclear pore blocking

A

Negative effects on communication between muscle cells (myocytes) with DM1 patients demonstrating 50% reduction in protein expression during muscle biopsies compared to healthy individuals

26
Q

Severity of DM1 in each tissue…

A

Dependent on number of CTG repeats with suggestions that the extent of CTG repeats isolated from peripheral blood of DM1 patients is indicative of disease severity as a whole

27
Q

DM1 patients commonly present with

A

insulin resistance in the ABSENCE of diabetes

28
Q

Proposed mechanisms associated with insulin resistance in DM1 include

A

splice variation in insulin receptor (IR) and IGF1R

29
Q

AKT1/GSK3 beta signalling

A

associated with decreased glucose uptake and fatigue common symptom in DM1

30
Q

AMPK and mTOR pathways

A

protein degradation
flagged as possible mechanisms in DM1-related insulin resistance

31
Q

Transcriptome analysis of OPTIMISTIC DM1 patient cohort

A

Key immune pathways
NFAT
OX40

32
Q

Immune pathways suggest muscle wasting in DM1 promotes disease severity

A

Due to ability of skeletal muscle to act as antigen presentation cells

33
Q

Increased muscle loss may play a role in

A

immune alterations associated with disease progression (increased MIRS scores)

34
Q

The DMSXL mouse model of DM1

A

has provided valuable insights into mechanisms underlying DM1

35
Q

Impaired protein synthesis in DMSXL mice causes

A

misplicing and expression of embryonic protein isoforms in adult muscle and heart leading to myotonia, synaptic dysfunction and insulin resistance

36
Q

How many repeats and what symptoms in DMSXL mouse

A

1000-1800 CTG repeats
Multisystemic DM1 feature
Severe growth retardation

37
Q

Motor dysfunction
Increased lipid content
Decreased serum insulin prompted…

A

Behavioural analysis for compulsivity

38
Q

Late phase reversal learning differences coupled to…

A

increased correction errors identified compulsive behaviour in the DM1 mouse mdoel

39
Q

DMSXL mice also demonstrated…..

A

Enhanced distinction behaviour with executive control similar to OCD

Brain Disorders (6 decks)

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