Disease (Pathology) Library
Recommended Reading: 【Bioinformatics】 Bioinformatics Analysis Table of Contents
1. Overview
3. Organ-Specific Functional Diseases
1. Overview
⑴ Category 1. Cancer Diseases
⑵ Category 2. Organ-Specific Functional Diseases
① 2-1. Respiratory Diseases
② 2-2. Metabolic Diseases
○ Intestinal Diseases
○ Liver Diseases
○ Diabetes
③ 2-3. Skin Diseases
○ Liver Fibrosis
○ Lung Fibrosis
○ Idiopathic Pulmonary Fibrosis
○ Scleroderma
④ 2-4. Neurodegenerative Diseases
○ Brain Diseases
○ Neurological Disorders
⑶ Category 3. Immune System Diseases
① 3-1. Infectious Diseases: Viral diseases, etc.
② 3-2. Inflammatory Diseases
③ 3-3. Autoimmune Diseases
④ 3-4. Immune Evasion Diseases: AIDS, etc.
⑷ Category 4. Aging: Recent views consider aging as a disease.
2. Cancer Diseases
○ AML(acute myeloid leukemia)
○ 20800 new case, 11220 death in 2024.
○ BRCA (Breast Cancer)
○ Metastatic breast cancer (MBC) has a worse prognosis than TNBC and shows greater resistance to chemotherapy.
○ ccRCC (Clear Cell Renal Cell Carcinoma)
○ Accounts for 70-80% of RCC (Renal Cell Carcinoma).
○ GBM (Glioblastoma)
○ Average survival is 12 ~ 18 months.
○ HNSCC (Head and Neck Squamous Cell Carcinoma)
○ 6th most common cancer globally: 838,860 cases annually.
○ ~50% 5-year survival rate.
○ Melanoma
○ (+) MAGEA3, HSPA8, NACA, HLA-G.
○ OSCC (Oral Squamous Cell Carcinoma)
○ Most common head and neck cancer.
○ Accounts for over 90% of cancers originating in the oral mucosal epithelium.
○ RCC (Renal Cell Carcinoma)
3. Organ-Specific Functional Diseases
○ AD (Alzheimer’s Disease): 55M dementia worldwide
○ (-) NEUROD6.
○ ALF (Acute Liver Failure): Mortality exceeds 50%.
○ ALS (amyotrophic lateral sclerosis)
○ GGGGCC is a hexanucleotide STR motif found in C9orf72 that is associated with this disease.
○ Alström syndrome
○ Blindness or severe vision impairment in infancy
○ Dark patches of skin (acanthosis nigricans)
○ Deafness
○ Impaired heart function (cardiomyopathy), which may lead to heart failure
○ Obesity
○ Progressive kidney failure
○ Slowed growth
○ Symptons of childhood-onset or type 2 diabetes
○ CAD (Coronary Artery Disease)
○ The most prevalent heart disease: Accounts for one-third of deaths under the age of 35.
○ Treated with antithrombotics.
○ CRS (Caudal Regression Syndrome)
○ Congenital malformations and agenesis of the kidneys, gastrointestinal tract, legs, and spinal cord
○ Occurs in 1 out of 60,000 to 100,000 newborns
○ Causes: Environmental factors, genetic factors, infants born to mothers with severe diabetes
○ DR (Diabetic Retinopathy)
○ As of 2021, 9.6 million Americans suffer from this condition, which affects one in four diabetes patients.
○ A disease in which blood flow to the eyes is blocked due to high blood sugar.
○ Symptoms: Hemorrhage, hard exudate, nerve damage
○ Diagnosis: An ophthalmologist examines the retina to make a diagnosis.
○ DSD(disorder of sex development)
| Chromosomes | Gonads | Genitals | Other characteristics / examples | |
|---|---|---|---|---|
| Typical male | XY | Testes | Male internal and external genitals | Male secondary sexual characteristics |
| Subtle variations | XY | Testes | Male internal and external genitals | Subtle differences such as low sperm production. Some caused by variation in sex-development genes. |
| Moderate variations | XY | Testes | Male external genitals with anatomical variations such as urethral opening on underside of penis. | Affects 1 in 250–400 births. |
| 46,XY DSD | XY | Testes | Often ambiguous | The hormonal disorder persistent Müllerian duct syndrome results in male external genitals and testes, but also a womb and Fallopian tubes. |
| Ovotesticular DSD | XX, XY or mix of both | Both ovarian and testicular tissue | Ambiguous | Rare reports of predominantly XY people conceiving and bearing a healthy child. |
| 46,XX testicular DSD | XX | Small testes | Male external genitals | Usually caused by presence of male sex-determining gene SRY. |
| Moderate variations | XX | Otherwise | Female internal and external genitals | Variations in sex development such as premature shutdown of ovaries. Some caused by variation in sex-development genes. |
| Subtle variations | XX | Ovaries | Female internal and external genitals | Subtle differences such as excess male sex hormone or polycystic ovaries. |
| Typical female | XX | Ovaries | Female internal and external genitals | Female secondary sexual characteristics |
Table 1. DSD(disorder of sex development)
○ HF (Heart Failure)
○ Roughly 50% risk of mortality within 5 years.
○ Hercules Syndrome
○ Excessive skeletal muscle development due to myostatin deficiency. Visceral muscles are normal. Can strain ligaments, tendons, kidneys, etc.
○ Myostatin: Inhibits skeletal muscle development and growth. Involved in ligament and tendon formation and development.
○ Liver disease
| group | gene | steatosis | cirrhosis |
|---|---|---|---|
| low lipoprotein output | PTPRD, PNPLA3, TM6SF2 | ↑↑↑↑ | ↑↑↑↑ |
| high lipoprotein input | APOE | ↑↑↑ | ↑↑↑ |
| low lipid burn | FTO | ↑↑ | - |
| insulin | INSR, PNPLA2, GRB14, SREBF1 | ↑↑↑ | - |
| absorb | MTTP | ↑* | - |
| glucose | GCKR, TRIB1 | ↑↑↑ | - |
| TG divert | MBOAT7, MARC1, TOR1B, ADH1B, GPAM | ↑↑↑↑ | ↑↑↑ |
| epidemiologic association | ↑ | ↑ |
Table 2. Liver-disease-related gene score
○ Myocardial Infarction: Predicted by elevated ST segment on ECG.
○ MAFLD (Metabolic Dysfunction-Associated Fatty Liver Disease)
○ Formerly known as NAFLD (Nonalcoholic Fatty Liver Disease).
○ Affects about 25% of the adult population worldwide, 40% in the US.
○ Emerged as a new disease in the 1980s.
○ NASH: 20 ~ 30% of NAFLD progresses to NASH.
○ Ovarian cyst rupture
○ Severe bleeding caused by sexual intercourse is a major cause.
○ Overview
○ First recorded by a physician named James Parkinson in 1817
○ Since 2020, over one million people in the United States have been suffering from Parkinson’s disease: it causes an economic burden of $52 billion annually
○ Causes
○ The basal ganglia and cerebellum are involved in gauging distances to objects: the basal ganglia are the motor centers
○ Dopamine is produced in the substantia nigra of the midbrain → Dopamine neurons control movement
○ Parkinson’s disease results in impaired movement control due to damage to dopamine neurons
○ Symptoms: Typically manifest after age 50
○ Tremor when at rest
○ Rigidity in arms, legs, and body
○ Bradykinesia (slowing of movement)
○ Postural instability
○ Diagnosis 1. MDS-UPDRS (Movement Disorder Society Unified Parkinson’s Disease Rating Scale)
○ Part I: Non-Motor Experiences of Daily Living (13 items)
○ Part II: Motor Experiences of Daily Living (13 items)
○ Part III: Motor Examination (33 items)
○ Part IV: Motor Complications (6 items)
○ Diagnosis 2. H&Y (Hoehn and Yahr) Scale
○ Stage I: Unilateral involvement
○ Stage II: Bilateral involvement, intact balance
○ Stage III: Bilateral disease, postural instability
○ Stage IV: Severe physical disability, but can still stand unassisted
○ Stage V: Wheelchair-bound
○ Treatments
○ Dopamine: L-Dopa can cross the BBB, but D-Dopa cannot
○ Levodopa preparations: Supplement dopamine
○ COMT inhibitors: Maximize dopamine utilization or increase efficiency
○ Requip, Mirapex: Supply alternative dopaminergic substances
○ Neuroprotective treatments like Umax, Tocopherol: Protect damaged dopamine neurons
○ MAO-B inhibitors: Delay the shutdown of dopamine production
○ Amantadine: Increases the remaining production capacity of dopamine
○ Dopamine receptor agonists
○ Dopamine-degrading enzyme inhibitors
○ Preeclampsia(PE)
○ Definition: new onset hypertension and proteinuria (protein in the urine) after weeks of gestation.
○ Occurrence: 3% to 9% of pregnancies worldwide and 3% in the US.
○ Mortality: Responsible for 70,000 maternal deaths and 500,000 fetal deaths globally each year.
○ Morbidity: Maternal multiorgan dysfunction, stroke, placental abruption, preterm birth, still birth.
○ Psoriasis
○ Chronic, inflammatory skin disease
○ Epidemiology: 0.2 to 2.5%. >100 million people with psoriasis worldwide. >4M Americans.
○ Economic burden: > $11 billion
○ Heritability: ~66%
○ Pulmonary Fibrosis: 3-year survival rate is only 50%.
○ Rett’s Syndrome: Related to methylated cytosine.
○ T2D(Type 2 Diabetes)
○ 90-95% of all diabetes cases, afflicting 25.8 million Americans (8.3% of population)
○ Symptoms: Insulin resistance in peripheral tissues, impaired pancreatic islet function
○ Medical costs: 2-4 fold increased risk of heart disease and stroke; kidney failure, blindness, lower limb amputation
○ Financial cost: $174 billion annually; projected to increase ~3X over next 25 years
○ 79 million people ≥ 20 years old are prediabetic
4. Immune System Diseases
○ HBV and HCV: Symptoms of HBV and HCV are similar.
○ Jaundice
○ Joint and muscle aches
○ Loss of appetite
○ Vomiting
○ Dark urine
○ HIV
○ Night sweats
○ Profound fatigue
○ Dry cough
○ Rapid weight loss
○ Rash
Input: 2023.10.10 14:46