STEM CELLS

Describe the ethical and practical challenges involved in investigating the potential of totipotent/pluripotent stem cells.

Technical difficulty

Legislative barriers such as laws prohibiting reproductive cloning in humans, use of embryonic stem cells (except for leftovers from IVF)

Can prove, it's just not legal

Brown and white pure-breeding mouse - cannot replicate this in humans

Mt disease (Meaghan)

Rigorous regulatory environment

Licensing bodies

Institutional approval

In vitro

In vivo

FACS

Lgr5+ Gut crypt stem cells

Axin2 + alveolar epithelial cells

CD34+ HSCs

CD73+, CD90+, CD105+ MSC, negative for myeloid and lymphoid markers

Surrogate clonogenic assays

Will a single stem cell differentiate into multiple cell types or a homogeneous population? Characterising potential

Different colony characteristics (e.g. BFU, CFU) correlated with certain potentials

Animal model

Congenic mouse model

Non-competitive re-population assay

Competitive repopulation assay

Competitor is a standard, or radioprotector

K/O or pertubation model

Repopulate with stem cells to see how well stem cells can repair

Surrogate = modelling in vivo

Discuss how the cellular microenvironment/niche influences stem cell behaviour. What are ways of/challenges of replicating this in tissue engineering?

Discuss how stem cells may be used as disease models and the various strengths and challenges of each approach.

Intrinsic regulation = transcription factors expressed, euchromatin vs heterochromtain

Extrinsic regulation

Surrounding cells

Stimulatory (permissive) or inhibitory (restrictive) signals

Example: Paneth cells in the intestinal crypts to regulate Lgr5+ stem cells

Example: MSCs regulating HSC differentiation and proliferation

Example: Liver stem cells --> Cholangiocytes (differentiation promoted by TGF-beta) and Hepatocytes (differentiation promoted by Notch signalling and ECM proteins)

Growth factors

Anti-inflammatory cytokines

Anti-fibrosis

Tissue specific niches

Cannot generalise about characteristics

MSC mess

Inconsistency

Tissue of origin

Genetic background

Differentiation protocols

Nomenclature

Transcriptional noise, inter-clonal variation

Characterisation/definition

Effective extrinsic signals

Some researchers simply use plastic adherence as marker for MSC

Current guidelines: 3 requirements

Plastic adherence

Differentiation into adipocytes, chondrocytes and osteoblasts

Markers: CD105+, CD90+, CD73+

Must replicate 3 aspects - tissue mimetic

Biological

Mechanical

Biochemical

Bioreactors that e.g. facilitating stretching for myocytes

Stiffness

Porosity for delivery of soluble factors

Layer by layer technique regulates release of heparin and bFGF

Sandwiching protects from degradation of soluble factors

Inkjetting technology and thermally induced phase separation

Modulates rate of delivery/release kinetics

Spheres made at varying levels of porosity and cross-linker levels as well as capping layers

bFGF vs alpha MSH

bFGF is bigger than alpha MSH

Crosslinking influences bFGF

No of capping layers influences aMSH

NOT HAVING A GOOD NICHE - FBR

Adsorbs layer of denatured proteins

Nts and macrophages aggregates around denatured proteins

Forms multinucleated giant cells

Release of cytokines recruits fibroblasts

Collagenous fibrosis, formation of acellular collagenous bag

Vasculature

In vivo bioreactors: angiogenesis by planting a blood vessel in bioreactor surgically

Signalling molecules, e.g. VEGF - consider release kinetics

Tools

Gene editing

Applications

Knockouts

Insert disease polymorphism into healthy individual

Insert reporter gene

Lineage tracing

Lineage tracing!

Working out contribution of gene to disease

Example: Parkinson's Disease

K/O of LRRK2 and SCNA to work out contribution of these polymorphism to disease

Insert LRRK2 and SCNA into normal background to observe contribution to disease and whether there are other precipitating factors

Insert LRRK2 OR SCNA separately - are these polymorphisms alone enough to produce diseased phenotype

Emphasis now on using well defined singular genetic background to study individual genes as opposed to inconsistency

Characterisation of differentiation protocols e.g. dopaminergic neuron development - k/o of different genes and observing effect on development of neurons in specialised areas of the brain

Reporters

Examples

Why are reporters used?

Guide in vitro control of stem cell differentiation

Observing drug efficacy

Lineage tracing

Allows straightforward readout of complex models

Luciferase (bio luminescent)

Fluorescent proteins (GFP, mCherry)

Pros:High through put screening of small molecular drugs

beta-lactamase

Pros: no substrate required

Cons: can be weakly or unpredictably expressed

Con: needs a substrate

Pros: good for live cell imaging

Disease modelling

Examples

Drug efficacy testing

Limitations

Why are they used?

Animal models are less predictive

Grown efficiently with robust differentiation protocols

Consistency

Ease of genetic manipulation

Personalised medicine

Specific to individual as opposed to generalised disease model

Polygenic diseases

Low penetrance and late onset

Alzheimers

Parkinsons

PSEN1, PSEN2, APP - highly penetrant/causative but <5% have this gene

APOE4 and TREM2 - intermediately penetrant/medium risk

BIN1 - low penetrance but high frequency in population

Used GWAS to identify these but can use k/o studies to investigate contribution further

Poorly replicated microenvironment

Inconsistent genetic backgrounds

Epigenetics disregarded

Schizophrenic patient iPSCs

Model Schizophrenia

Test drug efficacy in improving neuronal connectivity - done using rabies model looking at synaptic integrity

Rhett's syndrome

Alzheimer's

Major issue in drugs is cardiotoxicity

due to amine groups

Dog models have poor predictive capacity (50%) whereas iPSC models have predictive capacity that is 95% accurate

Current approach is reductionist

Using biologically irrelevant immortalised cells (transfected with receptor or interest that they're trying to target) - not reflective of normal biology

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over expression of target can lead to signalling artefacts (noise)

using enzymatic reporters to quantify gene expression

e.g. inducing Lmx1a expression through use of different kinase inhibitors using luciferase (sensitive plate based assay)

Organoids vs intermediate systems (combining cells) vs individual cells

Organoids

Cons: Only epithelial cells, cannot be replicated well --> therefore not suitable for drug testing (can't test multiple drugs on one organoid), not suitable for high throughput screening

Pros: 3D structure, multiple cell types

Intermediate systems

Lack of 3D structure

Poorly replicates micro environment

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iPSCs or ESCs allow for better lead selection and phenotypic screening