Disease Name

Deficiency/ Accumulation/Mutation Complex 1 Mutation of ETC.

KEYWORDS y Bilateral Blindness at Mid-age Mitochondrial disease=mater nally inherited

BLAH Stuff

Leber Inherited Optic Neuropathy

Phenylketonuria

Buildup of Phenylalanine

Megaloblastic Anemia

Deficiency of Folic Acid in adults.

Sickle Cell Anemia

Glu-6 mutation on B-chain Glu-Valine

Amyloidosis

Due to misfolded proteins

Osteogenesis Imperfecta Kwashiorkor

Collagen type 1 disorder Low protein

Alzheimer s Disease

APP protein converted to AB-40 and AB-42.

Deficiency of Phenylhydrox ylase y =No conversion to tyrosine y Mousy odor,Hypopig mentation In women who are preg. The baybays could have neural tube defects like Spina Bifida. Hb disease, Val gets buried into the cell forming a cleft. The RBC polymerizes and turns sickle. Cannot pass through capillaries=vasooculsi ve crisis. Accumulation of misfolded proteins forms insoluble fibrils -> cause cell death. Brittle bones,Scurvy Since they don t eat lots of No protein, no Albumin to mobilize water, so water leaks everywhere and stomach gets big. Ab40 and 42 form fibrils and amyloid plaques which turn into neurofibrillary tangles(nft) which y

Tyrosine= precursor of melanin ,T3,T4, cetacholamines.

Tyrosine is reqd in formation of neural tube. An indicator of Folic acid deficiency is Fi-GLU in urine. Non-conservative missense mutation coz nature of A.acid is changing. Autosomal Recessive.

Dumped in heart,brain etc.

Will do in class Growth retardation.

A hyperphosphorylated TAU protein is recruited after fibrils are formed.

Parkinson s Disease

Alpha Synuclein gene Mutation

Prion Diseases Mad cow disease Transmissible Spongyform Encephalopathy CJO croutchfeld Jacobs disease

Due to prions- PrP Misfolding diseasae

kills neurons. Memory Impairment (Ma name is Lisa remem) Due to lack of Dopamine in the substantia nigra. Mutation of Asynuclein causes misfolding which increases B-sheets and they form BSandwichhh. Presence of Lewy bodies in brain. Prp misfolds to PrP scrappy and increase in B-sheets. Dementia 1. Due to prion protein 2. Leads to increase in beta sheets and forms fibrils 1) Easy Bruising 2) Subcutaneous extravasations of blood (BLEEDING GUMS)

Remember TRAP Tremors Rigidity Akinesa-movmenet Postural probs Alpha synuclein is a motif.

Misfolding disease

In humans is Kuru,

Scurvy

Vitamin C deficiency

Thalassemias

Imbalanced in synthesis of & Globin chains

Thalassemias: 1) chain is decreased or absent. -Chain is normal. 2) -Globing gene on Chromosome 11. Thalassemias: 1) chain is decreased or absent. -chain is normal. 2) -Globin gene on Chromosome 16. Thalassemia is a problem of too few globins synthesized, whereas sickle-cell anemia is a problem of synthesis of an incorrectly functioning globin. Also beneficial for patient with Malaria like Sickle Cell Anemia.

Vitamin C is a reducing agent required in Hydroxylation of Proline and Lysine (hydroxyproline, hydroxylysine) in collagen fibers. Vit C deficiency results in greatly decreasing the tensile strength in the fiber. Thalassemias(common in Asians): 1. Only I gene functional: HbH (B tetramer, B4) 2. No gene functional: Hydrops Fetalis(gamma4) Thalassemias (common in Mediterraneans) 1. B minor one allele functional 2. B-major (cooly s anemia)no allele func. Treatment: 1) Transfusion 2) Iron Chelation

HbC (Hemoglobin C Disease) HbSC Hemoglobin SC Disease

Glu6lys

These patients do not suffer from infarctive crises, and no specific therapy is required In this disease some B-globin chains have the sickle cell mutation whereas the other B-globin chain carry the mutation found in HbC disease. 1. Methemoglobin = oxidized heme(Fe 3+) 2. Oxidation due to oxidizing drugs (chlorate and nitrates) or methemoglobin reductase deficiency Symptoms: 1) Chocolate colored blood, hypoxia, anxiety, headache, dyspnew, in rare cases, coma and death can occur. 1. Has high affinity 4 Hb 2. Tissue experience Anoxia 3. Treatment: oxygen tank Lack of spectrin and ankyrin binding proteins. Trtment is splenectomy

Lysine replaces Glutamate

HbM Methemoglobinemias

Patients remain well until they suffer an infarctive crisis, this crisis often follows childbirth or surgery and may be fetal. Treatment: Methylene blue Which is oxidized as (Fe3+) is reduced.

CO Poisoning

CO forms stable complex with Hb and therefore would not bind/release any O2. Common among Europeans.

Hereditary Spherocytosis

Hydrops Fetalis Bart s Hb

All 4 alpha genes not working Alpha thalesemia

Its an alpha thalassemia Still born baby

Ask an Asian.

Cooley s Anemia

No Beta-allelle Most severe type of Beta-Thalesemia

Hereditary Hemochromotosis

Overabsorpt ion of Iron due to HFE gene mutation.

Fe Overload, Aspartate amino transferase + Alanine amino transferase leaks outa hepatocytes. Also increase in bilirubin due to increased heme degradation = hyperbilirubinimia.

Incomplete penetrance=you could have it on your genotype and not phenotype. Autosomal Recessive. HFE gene is responsible for iron absorption.