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Gene/ Protein/ Disease Things to remember

Oncogene/
Chromosome

α SYNUCLEIN Protein and Alpha Synucleinopathy Associated with:

PARKIN Gene  Parkinson’s disease (a.k.a.
Mutation Paralysis Agitans)
e.g. Michael J.Fox, Muhammad Ali,
Freddie Roach
Four motor symptoms:
PINK 1 Gene  Juvenile Onset Parkinson’s 1. Unilateral Resting tremors (“pill-
Disease rolling” of hands)
2. Cogwheel/Leadpipe rigidity
3. Bradykinesia/ Akinesia
 Mask-like face 4. Postural instability (“stooped”
 Small handwriting posture)
(micrographia),
dementia Lack of Dopamine in pars compacta
 Decreased blinking neurons of the Substantia Nigra
 Hypophonia Tyrosine: the amino acid precursor of
 Shuffling gait dopamine
 Fall: the MC
problem in Levodopa + Carbidopa, Selegiline,
Parkinson’s Rasagiline
COMT inhibitors (entacapone, tolcapone)
Anticholinergics (trihexyphenidyl,
benztropine)
Amantadine

Haloperidol: the MC drug that causes

Parkinsonism  “Haldol shuffle”
(Antidote: Biperiden(Akineton))

Accumulation of Lewy Bodies

Multiple System Atrophy (MSA)

ADINOPECTIN An anti-inflammatory  Produced exclusively by

cytokine adipocytes
 Enhances insulin sensitivity,
and inhibits many steps in
inflammation
 Reduced in Metabolic Syndrome,
hence, causing the insulin
resistance

ALK protein Anaplastic large cell/ null cell  Bone marrow infiltration of
Anaplastic lymphoma lymphoma monoclonal B cells; (for the
kinase null:non-T & non-B)
t(2:5)  Smudge cells (basket cells)
 w/ immunopositivity to CD30
a.k.a. Ki-1
 Clusterin, another marker that
would differentiate from Hodgkin’s
 Have a golgi-staining pattern

Anti-CENTROMERE, The limited cutaneous form CREST Syndrome (the acronym)

Anti-NUCLEAR Abs, and (lcSSc) of  Calcinosis
Anti-Th RNP Systemic Scleroderma  Raynaud’s phenomenon
 Esophageal dysmotility
(Scleroderma)
 Sclerodactyly
 Telangiectasia

If lungs are involved: pulmonary arterial

hypertension
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Anti-DsDNA Antibody Systemic Lupus  Type III hypersensitivity

and Anti-Smith antigen Erythematosus (SLE) reaction
 In the HLA region of
Also ANAb, aENA Ag Chromosome 6
 Malar rash / Butterfly rash
 Libman- Sack’s endocarditis
mitral insuff.
 Accelerated atherosclerosis
 Myalgia, hemolytic anemia, joint
pains, fever, fatigue
 Class IV: Diffuse Proliferative
Membranous Glomerulonephritis
(with "wire loop" appearance)
(most severe type)
 LE Bodies/ Hematoxylin bodies
 Bibasilar reticular pattern in the
interstitial lung disease of SLE
(shrinking lung syndrome)
Treatment:
 Conservative: NSAIDs,
Hydrochloroquine
 For Life-threatening: Systemic
glucocorticoids,
Cyclophosphamide,
Mycophenolate mofetil,
Azathioprine

Anti-GAD Antibodies Stiff Man Syndrome These antibodies lead to a decrease in

GABA synthesis (↓ of inhibitory
neurotransmitters)
Impaired control/regulation of motor
functions muscle stiffness and spasm
GAD: glutamate decarboxylase (converts
glutamine into GABA)

Anti-GLIADIN Coeliac Sprue  Immune-mediated progressive

Antibody ataxia
 Anti-gliadin IgA: Gluten-sensitive
Idiopathic Neuropathy
 Anti-gliadin IgE: allergy, asthma
 Anti-gliadin IgG: similar to IgA but
higher levels
 Must have a “Gluten-free” diet
 toxic fraction of wheat, barley, rye
and also of oat

Tropical Sprue or Enteric abnormal flattening of the villi and

Sprue inflammation of the lining of the small
intestine

Malabsorption will lead to vitamin

deficiency (ADEK, B12)

Anti-GLOMERULAR Goodpasteur’s Syndrome or  GBM Antigen in the lungs and

BASEMENT MEMBRANE the kidneys
Antibodies Anti-GBM Disease  Crescents and linear deposits
(staining pattern)
 Type II hypersensitivity
 HLADR2
 Hemoptysis and hematuria

Anti-HISTONES Ab Drug-induced Lupus INH, Procainamide, Hydralazine,

Methyldopa, Chlorpromazine,
Minocycline, Disopyramide, Propafenone,
ACE Inhibitors, ß-blockers,
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Chlorpromazine, Lithium,
Carbamazepine, Phenytoin, PTU,
Sulfasalazine, Lovastatin, Simvastatin,
Macrodantin, Hydrochlorothiazide,
Interferon inhibitor, TNF inhibitor

Anti-MITOCHONDRIAL Primary Biliary Cirrhosis MC presentation: PRURITUS

Antibody (AMA) Autoimmune
Has 4 stages:
Anti-NUCLEAR Antibody 1. Portal: granulomas
(ANA) 2. Periportal: fibrosis & inflammation
3. Septal: fibrous septa
4. Cirrhotic: nodules; garland

Anti-neuronal Ab CNS lupus

Anti-nicotinic receptor Myasthenia Gravis Decreased binding of Acetylcholine to

antibodies
Edrophonium (Tensilon)
Test
Repetitive Nerve Stimulation
(JOLLY Test) 
decremental response
Single fiber stimulation:
more sensitive than RNS
nicotinic receptors (problem with Step#3
of Chemical Transmission)
 More common in females
 Easy fatigability of the muscles,
weakness at the end of the day,
weakness of the facial muscles
(esp. chewing meat), weakness of
the neck flexion
 Ptosis: the MC clinical
presentation
(NOTE: ptosis is also present in Horner’s
syndrome: Pancoast tumor)
Thymoma: the MC associated tumor with
MG
DOC: Pyridostigmine
Alt.: Neostigmine

Anti-ribosomal P Ab Psychosis 2˚ to CNS lupus

Anti-Ro Ab Neonatal Lupus Congenital heart block

Anti-SCL-70 Antibody Diffuse Systemic  Overproduced Transforming

a.k.a. Scleroderma Growth Factor ß
Anti-topoisomerase I  CREST syndrome
 GAVE (gastric antral vascular
Anti-nuclear antibodies: ectasia) also known as
Anti-RNA polymerase I, II, “watermelon stomach”
and III  Malignant hypertension
 May be caused by Bleomycin
Anti-U3 RNP and Taxane

 The Anti-U3 RNP is also highly

specific for SSc with
musculoskeletal, gastric and
pulmonary involvement

 Scleredema (scleredema
adultorum of Buschke)-
predominantly in children;
painless edematous induration
involving the face, scalp, neck,
trunk, and proximal portions of the
extremities

 Patients with insulin-dependent

diabetes mellitus may develop
digital sclerosis and contractures

Anti-Jo 1 Inflammatory Myopathy
Antiphospholipid Ab APAS
(anti-phospholipid antibody
syndrome)
Anti-U1 RNP Mixed Connective Tissue
Disease
“overlap syndrome”
APC Gene Familial Adenomatous
(Adenomatous Polyposis Polyposis
Coli) a.k.a. Gardner’s syndrome
(mutations in APC gene)
Colorectal Cancer
(inactivation of APC gene)
remember 5-FU
APOLIPOPROTEIN E4 Alzheimer’s Disease
(APOE4)
Pre-Senilin I
Pre-Senilin II
ATAXIN-1 Gene Spinocerebellar ataxia
Machado Joseph Disease
4
(prayer hand deformity)
Clotting predisposition
Repeated fetal loss
Thrombocytopenia
 In 95-100% of patients
 Has features of Sjogren’s
syndrome
 Has features of Scleroderma
(CREST syndrome)
 Has features of SLE: malar rash,
photosensitivity, discoid lesions,
alopecia, painful oral ulcers
 Pulmonary arterial hypertension is
the most common cause of death
APC gene is located in the long (q) arm of
Chromosome 5 [5q21]
Allelic loss: production of an APC protein
that is abnormally short and nonfunctional
substitution of the amino acid lycine for
isoleucine at position 1307 in the APC
protein
beta-catenin, is controlled by the APC
protein; prevents cell overgrowth
 Neurofibrillary tangles composed
of abnormally phosphorylated
Tau protein
 ß Amyloid proteins; located in
Chromosome 21 senile
plaques
(NOTE: common factor between AD and
Down’s syndrome: chromosome 21)
 Hippocampal atrophy
 (+) Hirano bodies in the neurons
 Average duration: 8-10 years
 End stage: Pt will be rigid, mute,
incontinent, bedridden
 TACRINE: a medicine for AD but
not used anymore
 DOC: Anti-Aceylcholinesterase
Inhibitor (to prevent further
breakdown of the “already-
depleted” levels of Ach)
SCA Type 1: C A G repeat 6p
Hypermetric saccades
Slow saccades
Upper motor neuron
SCA Type 2: C A G repeat 12q
Diminished velocity saccades
Areflexia
SCA Type3: C A G repeat 14q
Gaze evoked nystagmus
Slow saccades
Upper motor neuron
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ATM gene Inactivated in Ataxia Encodes a kinase essential for p53

telangiectasia activity
Characterized by hypersensitivity to xrays
and predisposition to lymphomas

Avidin blocks the co-enzyme Found in raw egg whites

BIOTIN: Vit.B7/Vit.H
(important in the synthesis of
fatty acids Acetyl CoA)

BACTERIAL PLASMIDs Small, circular pieces of self-replicating

DNA that often code for secondary
characteristics such as antibiotic
resistance to the host cell and toxin
production.

Example: exotoxin exfoliatin of Staph.

aureus

BCL-2 Follicular lymphoma

(oncogene)

BCG Gene Susceptibility to centromeric portion of chromosome 1

Mycobacterium disease
regulates directly the process of T cell-
independent macrophage activation for
antimycobacterial function

BENCE JONES protein  Multiple Myeloma BJs are monoclonal Ig L chains, dimeric,
either κ or λ, but not both High
concentrations are found in urine

MM is a hematologic malignancy of a
clone of Ig-producing plasma cells arising
in the bone marrow extremely high
levels of immunoglobulins in plasma;

Abnormal M Proteins (a.k.a. Myeloma Ig)

appear as “spike” in electrophoresis

Punched out lesions: lytic lesions (Xray)

Mott cells- grape-like clusters
MC primary bone tumor in adults
Bone pain (hallmark)
Also seen in:
 Waldenstrom
macroglobulinemia
 Non-Hodgkin’s
Lymphoma

BOMBESIN as tumor marker for: Stimulates Gastrin release from G cells

Amino acid peptide Neuroblastoma
Small Cell CA of Lung Together with cholecystokinin, it is the
Retinoblastoma second major source of negative
Gastric CA feedback signals that stop eating
behavior

BRCA1 (17q) Ovarian CA Required for p53 activity

BRCA2 (13q) Breast CA
(oncogenes)

Chargaff’s rule 1:1 ratio of Purines and
Pyrimidines
CHROMOSOME 4 Huntington’s disease
(Huntingtin gene)
CHROMOSOME 5 Cri du Chat
or Lejeune’syndrome
Familial Adenomatous
Polyposis (AFP)
CHROMOSOME 6 Refsum’s disease
CHROMOSOME 7 Cystic Fibrosis
CHROMOSOME 9 Friedrich Ataxia
Ataxia, nystagmus,
kyphoscoliosis, pes cavus
(high arched foot)
Spinal cord becomes thinner
 demyelination
Mental functions are not
affected
Treatment: IDEBENONE
CHROMOSOME 10 Refsum’s disease
CHROMOSOME 13 Patau Syndrome
Trisomy 13
47,XX,+13
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Adenine always pairs with Thymine/Uracil
Guanine always pairs with Cytosine
Triple C A G repeat; Autosomal Dominant
Pathognomonic: atrophy of the caudate
nucleus and putamen  ↓ in ACh and
GABA
“BOX CAR ventricles” : on CTScan (the
ventricles become bigger with the
loss/atrophy of the caudate)
Progressive chorea, Pre-senile dementia,
depression, rigidity, dystonia, MR,
seizures, behavioral problems
The altered huntingtin gene is believed to
interfere with aerobic respiration  must
resort to anaerobic respiration
Glutamate receptors of Px with HD tend
to be “oversensitive” to glutamate
Cry of the Cat; “cat’s meow”; cat’s eyes-
epcanthal fold
chromosome 5p deletion syndrome/5p
minus syndrome
deletion on chromosome 5
Peroxin-7 deficiency
CFTR gene; autosomal recessive
(+) Chloride sweat test (>70mmol/L)
MC monogenetic disorder in Caucasians
Raised transepithelial electric potential
difference: the diagnostic biological
hallmark
Can cause pancreatic insufficiency,
bronchiectasia
FXN gene encodes for the protein
Frataxin, an iron binding protein
responsible for forming iron-sulphur
clusters
frataxin deficiency is mitochondrial iron
overload which can cause damage to
many proteins
Expanded G A A triple repeats;
autosomal recessive
Phytanoyl Co-A deficiency
(or Phytannic acid)
Non-disjunction of chromosomes during
meiosis
Micropthalmia, microcephaly and MR
Polydactyly
Cleft lip and palate
Umbilical hernia
Heart and kidney defects
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Rocker bottom feet

Retinoblastoma Leukocoria: Amaurotic Cat’s eye/white

reflex in funduscopy
Flexner-Wintersteiner rosettes
Mutation in RB1 gene

Long arm: 13q: BRCA2 oncogene

Breast cancer

CHROMOSOME 15 Happy Puppet Syndrome or Maternal C15 is deleted; paternal

Angelman Syndrome sequence is normal

Prader-Willis Syndrome Paternal C15 is deleted; maternal

sequence is normal

CHROMOSOME 16 Alpha Thalassemia Decreased alpha globin production

Hemoglobin H

CHROMOSOME 17 Long arm: 17q: Café au Lait Spots

Von Recklinghausen’s Lisch nodules on iris
Disease Neurofibromatosis I

Short arm: 17p13.1: Tp53 Tumor Suppressor Gene

Li Fraumeni Syndrome Guardian of the Genome
Several cancers are involved

Long arm:17q: Hereditary cancer; germline mutations of

Ovarian cancer BRCA tumor suppressor gene

Canavan’s disease Deficiency of aspartocyclase or

aminocyclase 2  levels of N-acetyl
aspartate are chronically elevated
Progressive demyelination of nerve cells
in the brain  death before age 4

CHROMOSOME 18 Edwards Syndrome  Prominent occiput, MR,

Trisomy 18 micrognathia
47,XX,+18  Low set ears, short neck
 Clenched fist, overlapping fingers
 Heart and renal malformations
 Limited hip abduction
 Rocker-bottom feet

CHROMOSOME 21 Down’s Syndrome  Flat facies, oblique palpebral

Trisomy 21 (47,XY,+21) fissure, epicanthic folds, simian
hand creases
 Cong. heart disease
 Recurrent infections
 Acute lymphoblastic leukemia
(↑risk)
 Premature Alzheimer’s disease
 Duodenal atresia

Collagen The most abundant protein VITAMIN C cross links collagen; scurvy is
in the body; due to its deficiency

Hydroxylation of Glycine, Tropocollagen: 3 polypeptide chains

Proline into Hydroxyproline
and Hydroxylysine

c-JUN gene Proto-oncogene Importance:

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A growth-promoting gene
Transcription regulation
Negative regulation of DNA binding

C-KIT oncogene Gastro-intestinal Stromal Tumors are of mesodermal (interstitial

Tumors cells of Cajal)
(GISTs)  Bleeding or GI obstruction
 IMITINAB (Gleevec) – as
adjunctive therapy

C-MYC Burkitt’s Lymphoma Epstein Barr virus

(t 8;14) “starry sky” pattern of lymph node:
sheets of medium sized lymphoid cells

Assoc. with Nasopharyngeal CA

CYP11ß1 and Glucocorticoid-remediable There is fusion between these two

CYP11ß2 Hyperaldosteronism genes:
11-ß hydroxylase and aldosterone
synthase

CYP21A 21-Hydroxylase deficiency Mutations in this gene causes defective

conversion of progesterone to 11-
deoxycorticosterone
1. Salt-wasting syndrome: complete
deficiency of 21-hydroxylase
2. Simple virilizing adrenogenital
syndrome without salt wasting
3. Non-classic (late onset) adrenal
virilism: partial 21-hydroxylase
deficiency  acne, hirsutism,
menstrual irregularities

DNA HELICASE Werner syndrome  Premature aging

mutation  accelerated accumulation of
chromosomal damage
 mimics the injury that normally
accompanies aging

DYNEIN defect Primary Ciliary Dyskinesia Kartagener’s syndrome

Triad:
1. Situs invertus (dextrocardia)
2. Chronic sinusitis
3. Bronchiectasis

DYSTROPHIN Duchenne Muscular  MC form of childhood muscular

(the BIG gene) Dystrophy dystrophy
 (+) Gower’s Sign
 Pseudohypertrophy of the calf
 Frameshift mutation in 96%
 New mutation in 30%

DYT3 Gene XDP Found in Panay Island Philippines

Sex-linked Dystonia of “LUBAG”
Panay  unique to adult Filipino men
 pronounced atrophy of the
caudate and putamen
(just like Huntington’s disease)

Erb-B2 (Her2/Neu) Breast, Ovarian, Gastric CA

(oncogene)
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Excision endonuclease Xeroderma pigmentosum Excision endonuclease is deficient

Autosomal recessive
Extreme sensitivity to sunlight, skin
freckling, ulcerations, skin cancer

 Damage: nucleotide excision

repair of Thymine dimers (G1) is
deficient
 Cause: UV radiation
 Repair enzymes: DNA
polymerase, DNA ligase

Familial α-Lipoprotein Tangier’s disease Absence of HDL(“good cholesterol”)

receptor protein very low HDL in the
blood
 HDL cholesterol < 5 mg/dL in
homozygous individuals
 HDL cholesterol between 5 and
30 mg/dL in heterozygous
individuals

Due to a mutation in the gene called

ABCA1
 Clouding of cornea (also in
Hurler’s syndrome)
 Tonsils appear orange/yellow and
enlarged
 Neurological abnormalities
(including peripheral neuropathy,
decreased strength, loss of pain
or heat sensation, muscle pain)
 Abdominal pain, diarrhea
 Appearance or yellow patches on
the intestinal mucosa, including
the rectum
 Enlarged liver
 Enlarged spleen
 Premature cardiovascular disease

FIBRILLIN-1 Marfan’s syndrome  The gene FBN1 encodes for the

Tall, lanky, long limbs, long connective tissue protein:
thin fingers FIBRILLIN-1
(dolichostenomelia) there is also excessive Transforming
 With CHD: cystic growth factor ß (TGF-ß), which the
medial necrosis, fibrillin-1 normally bindsaffects the
MVP, aortic vascular smooth ms development and
regurgitation integrity of the ECMatrix
(+) Barlow syndrome
(midsystolic click)
 subluxation of the
lens (ectopia lentis),
Astigmatism,
Nearsightedness

FMR protein Fragile X syndrome Familial mental retardation protein

Abundant in brain and testes

 “fragile site” on Xq27.3

 Multiple C G G nucleotide repeats
(average #: 29; range: 6 - 55)
 Abnormal gene methylation and
transcriptional suppression
 Affected males: progressive
neurodegeneration, severe MR,
enlarged testes
 Affected female: premature
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ovarian failure

FRATAXIN Gene Friedreich’s Ataxia  expansion of an intronic G A A

(a mitochondrial protein) triplet repeat;
 areflexia, upgoing toes, vibration
and position sense deficits,
scoliosis, cardiomyopathy,
hammer toes
 Idebenone, a free-radical
scavenger, may improve
myocardial hypertrophy in FA
 iron chelators and antioxidant
drugs can increase myocardial
injury in FA

GHRELIN the hunger hormone increases the appetite and favors the
accumulation of abdominal fats
produced mainly by P/D1 cells lining the
fundus of the human stomach and epsilon
cells of the pancreas
 increased in Metabolic Syndrome

Glycogen branching Glycogen Storage Disease Amylopectinosis

enzymes type IV: Polyglucosan body disease
Andersen’s disease Failure to thrive

Glycogen debranching Glycogen Storage Disease Muscle weakness

enzymes 1,6 Type III: Hepatomegaly
Cori’s Disease Hypoglycemia
(Forbe’s disease) Hyperlipidemia

Limit dextrinosis

GLUTAMIC ACID Sickle Cell Anemia  Missense Mutation

substitution by VALINE in (a.k.a. HbSS)  Hemolytic crisis - anemia
position 6  Sequestration crisis - spleen
 Parvovirus B19 triggers Aplastic
Valine DDx: Maple syrup crisis
urine disease  Benefit from routine Flu vaccine
 Sickle shape gives resistance to
Malaria
 indigenous inhabitants of Sub-
Saharan Africa

GRANZYME B  A CTL-derived serine protease

Activates multiple caspases, thereby,
directly inducing the effector phase of
apoptosis

HER-2 oncogene Breast carcinoma  Indicates a poor prognosis if (+)

 Can be treated with targeted
therapy, such as Herceptin

Histidine The buffering capacity of hemoglobin is

due to this amino acid residue

HLA B27 Ankylosing Spondylitis MC Seronegative Spondylo-arthropathy

(a.k.a. Marie Strumpell “bamboo spine appearance”
disease / (+) Schober Test: limitation of lumbar
Bechterew’s disease) flexion
(+) Sacroilitis on XRay
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Reiter’s Syndrome Triad:

1. Inflammatory (reactive) arthritis
2. Conjunctivitis (uveitis)
3. Urethritis (in men) or Cervicitis (in
women)

 Keratoderma blenorrhagica
most common triggers are intestinal
infections with Salmonella, Shigella or
Campylobacter and sexually transmitted
infections with Chlamydia
trachomatis or Neisseria gonorrheae

Behcet’s syndrome  Oral and genital ulcers

 Uveitis (HLA B27)
 Progressive optic atrophy
 Intracranial hypertension with
papilledema

HLA B47 21-hydroxylase Deficiency

HLA DR2 SLE

HLA DR3  Primary Sjogren’s Sicca syndrome

syndrome Schirmer’s test
 Diabetes Mellitus
type 1
 SLE
 Postgonococcal
arthritis

HLA DR4 Rheumatoid Arthritis Persistent inflammatory synovitis

(DR ß1*0401)↑↑↑risk
(DR ß1*0404)
(DR ß1*0101) TNF-α: inflammation, fever,
bone and cartilage
Rheumatoid Factor resoprtion
in 66% of Px IL-1α: attacks thymosites
and neutrophils
Anti-Cyclic Citrullinated IL-1ß: attacks B&T cells, and
Peptide (anti-CCP) tissue cells
95% specificity IL-6: differentiation and bone
Indicates poor prognosis resorption
Rheumatoid nodule
CAD and carotid
atherosclerosis: MC cause
of death in RA px
 MC form of CHRONIC arthritis
 Symmetric polyarthritis, results in
joint damage
 Systemic disease with
extraarticular mx (>3joints); s/sx
>6weeks
 Early morning stiffness >one hour
SMOKING: most imp’t environmental
factor related to
Pannus formation: thickened cellular
membrane of granulation reactive to
fibrovascular tissue; with prevailing
fibroblast-like synoviocytes
Hallmarks:
 Cartilaginous destruction
(thinning)
 Focal bone erosions
 Synovial inflammation and
proliferation  joint deformity
Clinical features: (skeletal)
 Swan neck deformity
 Boutonniere deformity
 Z Line deformity
 Hammer Toe
 Mallet toe (resists straightening)
 Claw toe (spares the big toe)
 Baker’s cyst (knee to popliteal
fossa inflammation)

hMLH1 or hMSH2 HNPCC A mutation in any of these two genes

initiates defective repair of DNA
 12

mismatching, resulting in Hereditary Non-

polyposis Colorectal Cancer

HPC1 Prostate Cancer The susceptibility locus for prostate

cancer on chromosome 1 (1 in 500 cases)

HUNTINGTIN protein Huntington’s Disease  Triple C A G repeat (trinucleotide

(autosomal dominant) repeat)
 Chorea
 Dementia, behavioral disturbance
 Caudate nucleus
 Chromosome 4

JUMPING Gene Transposons;

DNA sequence that can move around to

different positions within the genomes

K-RAS Gene Colorectal CA MC site: Sigmoid colon

Pancreatic CA
Lung CA An oncogene that is a G-PROTEIN
Noonan syndrome
Cardio-facio-cutaneous A molecular on/off switch
syndrome

LEPTIN Inhibits appetite by counteracting the

effects of neuropeptide Y: a potent
feeding stimulant secreted by the cells in
the gut and in the hypothalamus
 Reduced in Metabolic Syndrome

Microphthalmia associated Tietz’ syndrome Deafness

transcription factor (MITF) Albinism
gene Leucism
(defects in all types skin pigments, not
just melanin)

Mirror images Enantiomers (in biochem)

Reed-Sternberg cells (in patho)

Motif Helix to helix Sequence pattern of nucleotides in a DNA

Zinc finger sequence or amino acids in a protein
Leucine zipper

NAGA gene Schindler disease α-N-acetylgalactosaminidase deficiency

(a.k.a. Kanzaki disease) I. Type I (Infantile): more severe,
with neurological and
neuromuscular symptoms
II. Type II (Adult): milder;
angiokeratomas, mild intellectual
impairment
III. Type III (Intermediate): seizures,
MR, autistic-like behavior,
delayed speech

NRAM Genetic protein Mycobacterium Avium Intracellulare

(Natural Resistance AIDS ("Lady Windermere syndrome")
Associated Macrophage)
collarstud abscess

P-16 Pancreatic CA
P-53 Tumor Suppressor Li-Fraumeni Syndrome
Gene several kinds of CANCER
are involved; often appears
at a young age; and, often
appears several times
throughout the life of an
affected person
PHILADELPHIA Chronic Myelogenous
Chromosome Leukemia
(t 9;22)
Phosphatidyl-inositol Paroxysmal Nocturnal
glycan (PIGa) Hemoglobinuria
PKD 1 Gene Autosomal Dominant Adult-
onset Polycystic Kidney
Disease
PKD 2 Gene Autosomal Recessive
Polycystic Kidney Disease
(presents in childhood)
PLA2G6 gene Infantile neuroaxonal
mutation dystrophy
Polymerase Chain
Reaction (PCR)
Pribnow Box a.k.a. Pribnow-Schaller Box
13
 Very specific for pancreatic CA
 The most frequently inactivated
tumor suppressor gene
Guardian of the Genome
 TP53 assists in repair or
destruction of "bad" or damaged
DNA
 Prevents a cell with damaged
DNA from entering the S phase
 Inactivation or deletion of p53 is
associated with Li-Fraumeni
syndrome
Abl (Abelson): a leukemia virus that
carries a similar protein
DOC for CML: Busulfan
Hemolytic anemia caused by an
ACQUIRED intrinsic defect in the cell
membrane
Acquired somatic mutations in PIGa
a “Ciliopathy”:
PKD may result from mutations of
signaling and environmental sensing
proteins, or failure in intraflagellar
transport, producing the characteristic
multiple cysts
Associated with:
 Berry Aneurysms
 MVP, Aortic reg
 End Stage Renal Disease
 Polycystic Ovaries/Liver
 No s/sx at birth, but begins at
around 6-18 months
 Initial hypotonia, gradually
becomes spastic
 Nystagmus, strabismus, optic
nerve atrophy
 Hearing loss
 Dementia
 Low levels of A2 Phopholipase
Enzymatic method for the repeated
copying (and thus AMPLIFICATION) of
the two strands of DNA that make up a
particular gene sequence
 Sequence TATAAT of six
nucleotides (thymine-adenine-
thymine) that is an essential part
of a promoter site on DNA for
transcription to occur in bacteria
 Involved in the initial recognition
of the promoter by RNA
polymerase
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Ramachandran Plot The angles of the two most common

types of secondary structure, α-helix and
ßsheet, fall within the lower and upper
left-hand quadrants

Rb 13q Retinoblastoma Flexner-Wintersteiner pseudorosettes

(oncogene)
Osteosarcoma “sunburst pattern” on Xray

S-100 protein As tumor marker for: mc: Superficial Spreading type or the
 Malignant nested pattern
Melanoma Dysplastic nevus: precursor of
 Malignant Peripheral MMelanoma
Nerve Sheath
tumors
 Schwannoma
 Histiocytoma
 Clear Cell Sarcoma

S Phase The phase is the cell cycle when DNA

undergoes replication

Shine-Dalgarno Sequence  Ribosomal binding site in the

mRNA generally located
upstream of the start codon/
initiating codon: AUG
 Helps recruit the ribosomes to the
mRNA to initiate protein synthesis
by aligning it with the start codon
 Found in prokaryotes
 Core DNA sequence:
5’TATAAA3’
 Kozak Sequence: the
eukaryotic equivalent of Shine
Dalgarno sequence

SHOX gene Short stature in Turner Loss of both copies of the SHOX
(short stature homeobox syndrome  45,X: XO Monosomy (absence of
on chromosome X) the Barr body)

SIRTUINS A family of proteins with histone

deacetylase activity
 Increase the production of
proteins that reduce apoptosis,
stimulate protein folding, increase
metabolic activity and insulin
sensitivity and reduce ROS

SPECTRIN Hereditary spherocytosis red blood cells that are sphere-shaped,

defect therefore more prone to hemolysis
 (+) Howell-Jolly bodies
Anemia, hyperbilirubinemia,
splenomegaly

STK11 gene on Peutz-Jeghers syndrome Benign hamartomatous polyps of the GIT

Chromosome 19 (a.k.a. hereditary intestinal  Hyperpigmented macules around
(mutation) polysposis syndrome) the lips and oral mucosa
Oral findings are same with Addison’s
disease and McCune Albright

Tamm Horsfall protein Uromodulin

Protein in the kidney tubules

TATA Box a.k.a. Goldberg-Hogness
Box
Taupathy
TAU Protein
Alzheimer’s disease
Watson and Crick model of 3 : one complete turn or
DNA helix pitch of the Watson
and Crick
Helicase: the enzyme that
will unwind the DNA helix
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A DNA sequence (cis regulatory element)
found in the promoter region of genes in
eukaryotes
Hyperphosphorylation will lead to self-
assembly of tangles of paired helical
filaments and straight filaments
Decribes the DNA as following:
 Base pairing
 Helical
 Right-handed
 Complimentary strands
 Anti-parallel strands
 Sugar-phosphate backbone
outside and bases stacked inside
 Twisted ladder structure
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