er technology to treat diseases

synthetic hormones may be developed to control or treat endocrine dysfunction, including diabetes mellitus, to improve the quality of life for individuals

synthetic hormone are lab made versions of naturally occurring hormones that help regulate bodily functions. theyre used to treat endocrine disorders where the body fails to produce enough of a particular hormone. synthetic insulin is the most common synthetic hormone to treat diabetes, it helps regulate blood glucose levels by allowing glucose to enter cells. can be administered via injections, insulin pumps or artificial pancreas system.

1. gene identification: identify specific gene that codes for insulin production

2. gene cloning: once the gene is identified, it is cloned. this involves using staggered restriction enzymes to cut the dna at a specific site making sticky end. allowing insulin gene to be isolated. gene is instered into dna plasmid

3. transformation: plasmid containing insulin producing gene introduced into yeast cell. bacteria takes up plasmid and incorporates into own genetic material

4. protein production: transformed bacteria cultered in large fermentation tanks. as they grow and divide they use instructions from inserted human insuline gene to synthesise insulin

5. harvesting and purification: after sufficient hormone production bacteria harvested. insulin is extracted and purified ensuring final product is safe for medical use

6. formulation: purified hormone formulated into suitble form for administration like injection or tablet. humulin

need to ensure vector/ plasmid is not pathogenic

gene therapy can be used to treat a range of diseases, including diabetes mellitus

t1: modify immune system to prevent it from attacking insulin producing beta cells in pancreas

t2: boost insulin sensitivity in cells reducing insulin resistance

cell replacement therapy has the potential to treat nervous system disorders including Alzheimer’s and Parkinson’s diseases

parkinsons: stem cells transplant into brain to replace lost dopaminergic neurons

alzheimers: stem cells replace lost neurons and improve cognitive function

risks: immune rejection, tumour formation, ethical issue use of embryonic stem cells

Tolerance limits of blood glucose including normal levels of blood glucose.

normal between 4-7.8 mmol/L. fasting 3.9-5.5mmo/L.postprandial up to and less than 7.8 mmol/L

diabetes 11-17mmol/L

diabetes type 1 and 2

diabetes is a chronic metabolic disorder characterised by persistently high blood glucose levels, occurring when either the body doesn’t produce enough insulin or can’t effectively use the insulin it produces.

In t1 the pancreas doesn’t make insulin due to the bodys immune system attacks the islet cells in the pancreas that make insulin 20

t2 body becomes resistant to insulin. 80

dangerous as hyperglycaemic or hypoglycaemic state can cause severe cellulae damage and disrupt metabolic pathways due to chemical reactivity making glucose toxic.

hyperglycaemia vs hypoglycaemia t1vt2

hyperglycaemia (high blood sugar) due to lack of insulin production in t1. insulin resistance in t2.

hypoglycaemia occur if insulin doses too high t1 and less common but with certain medication in t2

causes and risk factor t1/2

t1: autoimmune destruction of pancreatic beta cells, results from genetic predisposition

t2: obesity, sedentary lifestyle, poor diet, family history, over 45

more common over 45 due to decreased physical activity, changes in body composition, increased insulin resistance

diagnosis t1/2

fasting blood test and oral glucose tolerance test. t1 diagnosed in childhood, t2 adulthood often during routine screenings

symtpoms and reasons for t1/2

t1:increased thirst, urination, weight loss due to ketosis, blurred vision. caused by excess glucose in bloodstream leading to osmotic imbalances and energy deficits due to glucose in blood stream instead of cells

t2: slow healing sores and frequent infections due to impaired immune function as hyperglycaemia affects function of phagocytic cells

both for both except weight loss is not applicable for t2

complications if poorly managed t1/2

t1: cardiovascular diseases, neuropathy, nephropathy, retinopathy, diabetic ketoacidosis: buildup of harmful ketone substances in the blood caused by shortage of insulin

t2: hyperosmolar hyperglycaemic state in severe cases where blood sugar remains high for a long period of time. same as t1 except for ketoacidosis

how diabetics monitor blood glucose levels

regular self monitoring using glucometers. t1 may be continuous and t2 frequency depends on treatment regime

current treatment (how insulin can be administered) t1/2

t1: insulin therapy via injections or pumps, dietary management, regular physical activity

t2: lifestyle modifications, oral medications like metformin: decrease amount of glucose you absorb from food and amount of glucose made by liver, increase body response to insulin. insulin therapy in advanced cases

insulin can be administered through subcutaneous inject: insulin injected under skin using syringes, insulin pens or pumps. rotate site to prevent tissue damage, pump deliver continuous insulin thru a catheter under a skin. intravenous insulin: insulin directly delivered into bloodstream via iv drip. used in emergency situations like diabetic ketoacidosis or hyperosmolar hyperglycaemic state where rapid blood glucose reduction required

future treatment possibilities diabetes (latest research in gene therapy)

research into gene therapy aiming to restore insulin production by correcting genetic defects and express glucokinase gene or regenerating beta cells using embryonic stem cells. gene inserted into vector which infects alpha islet of langerhan, produce insulin instead of glucagon when bs high

t2: exploring drugs that enhance insulin sensitivity or secretion. secretion because insulin resistance is not completely, increasing insulin levels help overcome resistance by forcing more glucose into cells. in early t2 beta cells overproduce insulin and get worn out becoming insulin deficient. so secretion slows down disease progression and delays the need for external insulin

prevention of t2 diabetes

maintaining healthy weight, regular exercise, balanced diet, regular health screenings

cell replacement therapy (define, example, risks and ethical consideration)

involves replacing damaged or dysfunctional cells with healthy ones, often using stem cells

replacing dopaminergic neurons in parkinsons disease

immune rejection, uncontrolled cell growth and tumout formation, potential for introducing infections

use of embryonic stem cells raises concerns about moral status of embryos, issues of consent and potential exploitation

gene therapy (define, example, risks and ethical consideration)

involves altering or manipulating genetic material within a patients cells to prevent or treat disease

introducing functional genes to compensate for defective ones in genetic disorders, editing genes associated with diseases

unintended genetic changes, immune reactions, potential for inducing cancer

concerns about genetic enhancement, consent in germline editing and potential long term effects on future generations

Alzheimer

a progressive brain disorder that slowly destroys memory and thinking skills, eventually impacting a persons ability to perform everyday tasks. most common cause of dementia

causes and risk factor of Alzheimer

accumulation of beta amyloid plaques and tau tangles leading to neuronal death as nutrients and signal transport are disrupted. caused as plaques clump outside neurons and disrupt cell communication and trigger inflammation leading to neuron death

age, family history, certain genetic mutations, cardiovascular disease, traumatic brain injury

diagnosis of alzheimers

clinical assessment of cognitive function, medical history and neurological exams, imaging techniques like mri and pet scans to detect brain changes, biomarker tests analysing cerebrospinal fluid for amyloid and tau proteins

symtpoms and reasons for symptoms of alzheimers

early stage: memory lapses, difficulty finding words, misplacing items

moderate stage: confusion, mood swings, difficulty performing familiar tasks

severe stage: loss of ability to communicate, recognise loved ones, perform basic tasks

reasons: neuronal damage disrupts communication between brain regions, leading to cognitive and functional decline

current treatment for alzheimers (acetycholinesterase/ cholinesterase inhibitors)

in alzheimers acetycholine levels drop due to neuron damage.

acetycholinesterase inhibitors like donepezil and galantamine increase acetycholine levels by blocking the enzyme acetycholinesterase, enhancing communication between neurons

ndma receptor antagonists: memantine regulates glutamate activity to protect neurons from damage

future treatment possibilities for alzheimers (latest research in cell replacement therapy)

cell replacement therapy: exploring use of stem cells to generate new neurons or support existing ones.

gene therapy: aim to modify genes associated with alzheimers to prevent or slow disease progression

link between Alzhiemers and diabetes

people with diabetes are significantly more likely to develop alzheimers as both conditions are partially caused by insulin resistance. tight control of blood sugar can lead to hypoglycaemia which is known to damage the hippocampus - the memory center of brain

parkinsons disease

progressive neurodegenerative disorder that affects movement, causing tremors, stiffness and difficulty with coordination. it results from the loss of dopaminergic neurons in the brain leading to a shortage of dopamine which is essential for smooth and controlled muscle movements

what does dopamine do? dopamine acts as a neurotransmitter in the brain. at the synapse dopamine is released from the presynaptic neuron into the synaptic cleft. it then binds to dopamine receptors on the post synaptic neuron, triggering a series of biochemical reactions that transmit signals across synapse

causes and risk factor of parkinsons

degeneration of dopamine producing neurons in substantia nigra in midbrain, loss of dopamine affects striatum and cortex which controls movement contributing to characterisitc symptoms

over 60. gene mutations like PARK7 PINK1. environmental factors like exposure to head injuries or pesticides. males

diagnosis of parkinsons disease

no single test can confirm. medical history and neurological assessment: presence of bradykinesia and tremors or rigidity. dopamine transporter scan which is a brain imaging test to detect dopamine deficiency. mri and ct scans to rule out other conditions

symptoms and reasons for symptoms of parkinsons

motor symptoms like tremors, bradykinesia, muscle rigidity and postural instability which is due to dopamine deficiency which affects movement and coordination.

non motor symptoms like depression, anxiety, sleep disturbance, autonomic dysfunction due to affecting brain regions like prefrontal cortex, limbic system and autonomic division of nervous system

current treatment for parkinsons (role of dopamine)

no cure. treatments to increase dopamine levels or control symptoms. medication like levodopa which is converted into dopamine in the brain by dopaminergic neurons that are still functional once ingested and crossed blood brain barrier help restore movement. carbidopa prevents levodopa from breaking down before reaching brain. this helps replenish dopamine levels in brain reducing motor symptoms of parkinsons disease

dopamine agonist: mimic dopamine by activating dopamine receptor.

inhibitors preventing dopamine breakdown

anticholinergics help with motor and tremor contorl

deep brain stimulation where electrodes implanted in basal ganglia to regulate brain signals, reducing temors and stiffness. last method

future treatment possibilities for parkinsons (latest research in cell replacement therapy

replacing lost dopaminergic neurons to restore dopamine production. induced pluripotent stem cells: scientists reprogram skin or blood cells into dopamine producing neurons for transplantion

embryonic stem cells: can develop into dopaminergic neurons and integrate into brains existing neural network to replace damanged ones with healthy ones but ethical concerns exist

gene editing: used to modify stem cells for better survival and function

ketosis

metabolic state that occurs when your body burns fat for energy instead of glucose. apparent in t1 diabetes mellitus

Glucokinase

enzyme that regulates the uptake of glucose from the blood

how many people living in aus with

diabetes 1.5m, 120,000 diagnosed each year

480,000 with dementia, 250 diagnosed each day

what percentage of dementia is caused by alzheimers

70

gene therapy process

isolate stem cells from patient - multipotent or pluripotent and induce back to embryonic totipotent.

gene insertion - vector creation ensure not pathogenic, transduction (stem cells exposed to vector in artificial environment.) vector infect differentiated stem cell, choose right ones, reintroduction into patient