1
Q
What is the chromatin?
A
Many nucleosomes linked together
2
Q
What forms a nucleosome?
A
DNA connected to histone
3
Q
What is chromosome?
A
Many chromatins linked together
4
Q
What is the role of H1 in chromatin structure?
A
H1 binds to the nucleosome and linker DNA, stabilizing the chromatin fiber
5
Q
How does histone and DNA bind to each other?
A
DNA nucleotides are charged negatively (because of phosphate) and Histone is positively charges (due to Lysine and Arginine)
6
Q
What is euchromatin?
A
Less condensed chromatin that is transcriptionally active. Appears light.
7
Q
What is heterochromatin
A
Condensed chromatin that is transcriptionally inactive. Appears dark.
8
Q
What is DNA methylation?
A
Adding methyl group to DNA segment, making it inactive
9
Q
What is the effect of methylation within gene promoters (CpG islands)?
A
Represses (silences) gene transcription.
10
Q
What is the effect of histone methylation?
A
Makes DNA mute (inactive).
11
Q
Which residues of histones can be methylated?
A
Lysine
Arginine
12
Q
What is histone acetylation?
A
Removal of histone’s positive charge (by acetyl group), relaxing DNA and promoting transcription.
13
Q
What is the effect of histone deacetylation?
A
Tightens DNA coiling, leading to transcriptional deactivation.
14
Q
True or False: Histone deacetylation activates DNA.
A
False
15
Q
What is a nucleoside?
A
Base + (deoxy)ribose (sugar)
Nucleosides are the building blocks of nucleotides, consisting of a nitrogenous base attached to a sugar.
16
Q
What components make up a nucleotide?
A
Base + (deoxy)ribose + phosphate (-)
17
Q
What are the two types of nitrogenous bases?
A
Purines (A, G) and Pyrimidines (C, U, T)
Purines have two rings, while pyrimidines have one ring.
18
Q
What is the structure of purines?
A
2 rings
Purines include adenine (A) and guanine (G).
19
Q
What is the structure of pyrimidines?
A
1 ring
Pyrimidines include cytosine (C), uracil (U), and thymine (T).
20
Q
Which nucleotide is found in RNA?
A
Uracil
Thymine is found in DNA.
21
Q
Which nucleotide is found in DNA?
A
Thymine
Thymine replaces uracil in DNA.
22
Q
What is the strength comparison between C-G and A-T bonds?
A
C-G bond (3 H bonds) is stronger than A-T bond (2 H bonds)
This affects the melting temperature of DNA.
23
Q
In which direction does DNA replication occur?
A
5′ to 3′ direction
24
Q
What is the replication fork?
A
Y-shaped region along DNA template where leading and lagging strands are synthesized
25
What is the function of helicase?
Unwinds DNA template at replication fork
26
What do single-stranded binding proteins do?
Prevent strands from reannealing or degradation by nucleases
27
What is the function of DNA topoisomerases?
კეტავენ უბანს
28
Which drugs inhibit topoisomerase I in eukaryotes?
Irinotecan/topotecan
29
Which drugs inhibit topoisomerase II in eukaryotes?
Etoposide/teniposide
30
Which drugs inhibit topoisomerase II and IV in prokaryotes?
Fluoroquinolones
31
What is the name of DNA topoisomerase in prokaryotes?
DNA gyrase
32
What does primase do?
აშენებს ნაწილებს რომ DNA polymerase დაიწყოს მოქმედება და აგრძელებს (Okazaki fragments).
33
What is the function of DNA polymerase?
ასინთეზირებს შვილეულ ჯაჭვს 5 -> 3 ისკენ.
Lagging strand ში - 3 -> 5 ისკენ.
34
What does ligase join in the DNA replication process?
Joins Okazaki fragments
35
What is telomerase?
A reverse transcriptase (RNA-dependent DNA polymerase) that adds DNA (TTAGGG) to 3′ ends of chromosomes to avoid
loss of genetic material with every duplication
36
Whats is another names for telomerase?
Reverse transcriptase
RNA-dependent DNA polymerase
37
In which conditions is telomerase downregulated?
Aging and Progeria
38
Purine synthesis begins with the conversion of Ribose 5-phosphate to _______ by PRPP synthetase.
PRPP (Phosphoribosyl pyrophosphate)
39
dUDP is converted to _______ in pyrimidine synthesis.
dUMP
40
Thymidilate synthase requires which cofactor for its activity?
B9 vitamine - Tetrahydrofolate (THF)
41
Which enzyme is required for inactive DHF to become active THF?
Dihydrofolate reductase
42
Dihydrofolate reductase is inhibited by which drugs?
Methotrexate (MTX), trimethoprim (TMP), Pyrimethamine
## Footnote
in humans (methotrexate), bacteria (trimethoprim), and protozoa (pyrimethamine)
43
What enzyme unwinds the hydrogen bonds during DNA replication?
Helicase
44
Telomerase functions as what type of enzyme?
reverse transcriptase (RNA-dependent DNA polymerase)
45
As age increases, the activity of telomerase _______.
decreases
46
Progeria is associated with a defect in which enzyme?
telomerase
47
Southern blotting
DNA
48
Northen blotting
RNA
49
Western blotting
Protein
50
What happens in polymerase chain reaction (PCR) denaturation step?
DNA ჯაჭვები შორდება ერთმანეთს (იშლება წყალბადური ბმები).
51
What happens in polymerase chain reaction (PCR) annealing step?
უკავშირდებიან primer ები, იწყება DNA სინთეზი.
52
What happens in polymerase chain reaction (PCR) elongation step?
DNA polymerase ით ხდება რეპლიკაცია და საბოლოოდ ვიღებთ DNAებს.
53
3 steps of polymerase chain reaction (PCR)
1. Denaturation (90)
2. Annealing (40-60)
3. Elongation (70-75)
54
Which drugs inhibit adenosine deaminase?
Cladribine
Pentostatin
55
Which drugs inhibit xanthine oxidase?
Allopurinol
Febuxostat
56
Xanthine is converted into uric acid by _.
Xanthine oxidase
57
Adenosine deaminase deficiency causes _.
SCID (Severe combined immunodeficiency)
58
Which enzyme is defective in Lesch-Nyhan syndrome?
HGPRT (hypoxanthine-guanine phosphoribosyltransferase)
59
What happens in Lesch-Nyhan syndrome?
ნუკლეოტიდების უკუსინთეზი ვეღარ ხდება და ყველა იშლება (შემცირებულია GMP და IMP) და იზრდება uric acid დონე.
60
True or False: Lesch-Nyhan syndrome is X-linked recessive.
True
61
Lesch-Nyhan syndrome symptoms
HGPRT: Hyperuricemia
Gout
Pissed off (self-mutilation, aggression - კანშიც გროვდება uric acid)
Red/orange crystals in urine
Tense muscles (dystonia)
62
Double stranded DNA repair mechanisms
Nonhomologius end joining
Homologous recombination
63
Nonhomologius end joining
დაზიანდა DNA ორი ჯაჭვის რაღაც უბანი, ერთი ბოლო გადაეკერება მეორე ჯაჭვს, მეორე ბოლო მეორე ჯაჭვს და ამოაგდებენ დაზიანებულ ადგილს.
64
Homologous recombination
დაზიანებულ DNA ჭირდება სხვა დამხმარე/ჰომოლოგიური DNA. გადაკერდებიან ერთმანეთზე და ამოვარდება დაზიანებული ადგილი.
65
Single stranded DNA repair mechanisms
Nucleotide excision
Base excision
Mismatch repair
66
Nucleotide excision repair
ერთ ჯაჭვში ზიანდება ნუკლეოტიდი, endonucleases ამოჭიან ამ დაზიანებულ მონაკვეთს, მოვა DNA polymerase რომელიც ახალ ჯაჭვს ჩასვამს და ligase მიაკერებს.
67
Base excision repair
ჯაჭვში ზიანდება base ფუძე (A,T,C,G). მოდის Glycosylase და Endonuclease ამოაგდებენ base ფუძე და დარჩება მხოლოდ რიბოზა და ფოსფატი. მოდის Lyase რომელიც ამოჭრის რიბოზას და ფოსფატს. DNA Polymerase ჩასვამს ახალ ნუკლეოტიდს და ligase მიაკერებს.
GEL Please: Glycosylase
Endonuclease
Lyase
Polymerase
Ligase
68
Mismatch repair
როცა აღმოჩნდება არაკომპლემენტარული ნუკლოტიდი ჯაჭვში (მაგ, A თან აღმოჩნდა G, T ის მაგივრად). ამოიჭრება Endonuclease ით, DNA Polymerase ჩასვამს ახალ სწორ ნუკლეოტიდს და ligase მიაკერებს.
69
Defect in nucleotide excision repair causes
xeroderma pigmentosum (dry skin, photosensitivity, skin cancer)
70
Defect in mismatch repair causes
Lynch syndrome (hereditary
nonpolyposis colorectal cancer)
71
Start codon
AUG (methionine)
72
Stop codons
UAG, UGA, UAA
73
Silent mutation
ტრიპლეტში არის ისეთი მუტაცია რომელმაც არ შეცვალა ამინომჟავა (არ გვაძლევს არაფერს). ხშირია მე 3 ადგილას.
74
Missence mutation
ხდება ისეთი მუტაცია რომელიც ცვლის ამინომჟავას.
75
What type of mutation occurs in sickle cell anemia?
Missence mutation
76
In sickle cell anemia _ is changed to _ amino acid.
Glutamate
Valine
77
Nonssense mutation
მოხდეს ისეთი მუტაცია რომ გახდეს stop codon, რომელიც შეწყვიტავს ცილის სინთეზს ნაადრევად.
78
Frameshift insertion
ტრიპლეტში ემატება 1 ნუკლეოტიდი.
79
Frameshift deletion
ტრიპლეტში იშლება 1 ნუკლეოტიდი.
80
Which bacteria has Lac operon?
E.coli
81
When does Lac operon function?
როცა ბაქტერია არახელსაყრელ გარემოში მოხდება (სადაც არაა გლუკოზა და გვაქვს lactose)
82
How does Lac operon gets activated?
აქტიურდება adenylate cyclase და მივიღებთ cAMP ის ATP დან. ის გააქტიურებს CAP (catabolite activator protein) და გააქტიურებს lac operonს (დაშლიან lactose და გამოყოფენ გლუკოზას)
83
How does glucose inhibit the Lac operon?
Glucose თვითონვე აინჰიბირებს adenylate cyclase
84
Codominance
Both alleles contribute to the phenotype of the heterozygote.
85
Variable expressivity
Patients with the same genotype have varying severity and symptoms.
და-ძმას აქვს ერთი და იგივე დაავადება თუმცა ერთში უფრო მძმეა, მეორეში ნაკლებად.
86
Incomplete penetrance
Not all individuals with a pathogenic gene
variant show the disease.
გენის მუტაცია არ ნიშნავს 100% დაავადების გამოვლინებას.
87
Pleiotropy
One gene contributes to multiple phenotypic
effects.
ერთი გენის მუტაცია იწვევს ბევრ სიმპტომებს.
88
Anticipation
Increased severity or earlier onset of disease in succeeding generations. Trinucleotide repeat diseases
გაზრდილი პროგნოზი დაავადების განვითარების ნაადრევად.
89
Aneuploidy
ქრომოსომის abnormal რაოდენობა.
90
Linkage disequilibrium
Tendency for certain alleles to occur in close
proximity on the same chromosome more or less often than expected by chance. Measured in a population.
საზომი პოპულაციაში გენების კვლევის.
91
Mosaicism somatic
Mutation arises from mitotic errors after fertilization
გენის მუტაცია ხდება კვერცხუჯრედის განაყოფიერების შემდეგ.
92
Mosaicism germline
Mutation only in egg or sperm cells.
მუტაცია მოხდა განაყოფიერებამდე. არის letal.
93
McCune-Albright syndrome is caused by
Gs-protein activating mutation
94
McCune-Albright syndrome presents with
unilateral cafe-au-lait spots
95
Locus heterogenity
Mutations at different loci result in the same
disease.
ბევრ ლოკუსში მუტაცია გვაძლევს ერთი და იგივე დაავადებას.
96
Allelic heterogeneity
Different mutations in the same locus result in
the same disease.
განსხვავებული მუტაციები ერთ ლოკუსში გვაძლევს ერთი და იგივე დაავადებას.
97
Heteroplasmy
Presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrially inherited disease.
მიტოქონდრიული dna გადაეცემა დედიდან შვილს. მიტოქონდრიული დაავადებებიც დედიდან გადაეცემა შვილს.
98
Uniparental disomy
იღებს 2 copies of one chromosome from one parent and no copies from the other parent.
გენის მუტაცია.
99
What is the function of the promoter region in a gene?
უბნის დასაწყისი. შეიცავს CAAT და TATA boxes საიდანაც იწყება გენის გადმოწერა ინფორმაციულ RNAზე
100
Promoter region main elements
CAAT box
TATA box
101
Which DNA sequences enhance transcription efficiency?
Enhancer
| ექსპრესიის გაზრდა, გენის გადმოწერას ზრდის.
102
Which DNA sequences decreases transcription efficiency?
Silencer
| ამცირებენ ექსპრესიას, გენის გადმოწერას ამცირებს.
103
რა ემატება RNA-ს 5′ ბოლოზე ტრანსკრიფციის დროს?
Methylguanosine
104
რა ემატება RNA-ს 3′ ბოლოზე ტრანსკრიფციის დროს?
Adenyl
| polyadenylation
105
What are intrones?
არასაჭირო ინფორმაციები რომლებიც არ აკოდირებენ ცილას. უფრო მეტი გვაქვს. მუტაციები ხდება აქ.
106
What are exsons?
შეიცავენ ინფორმაციას ცილის შესახებ.
107
What does splisosome (snRNP) do?
ამოჭრის intron ებს და წარმოქმნის mRNA
108
What does P-bodies do?
დამატებულ ბოლოებს მოაშორებს და ინახავს mRNA ს.
109
Where do we have P-bodies?
In cytoplasm
110
Alternative splicing
ეგზონების თანმიმდევრობის გადანაცვლებით წარმოიქმნება სხვა და სხვა ცილები.
111
What does splisesome (SnRNP) defect cause?
Spinal muscular atrophy
112
What happens in spinal muscular atrophy?
| which syndrome does it cause?
degeneration of anterior horn of spinal cord -> იწვევს symmetric weakness, hypotonia (floppy baby syndrome)
113
Whats the function of RNA polymerase?
უზრუნველყოფს mRNA სინთეზს გენის მიხედვით. უზრუნველყოფს ტრანსკიფციის პროცესს.
114
RNA polymerase 1
rRNA
| In nucleolus
115
RNA polymerase 2
mRNA
116
RNA polymerase 3
tRNA
117
What inhibits RNA polymerase 2?
α-amanitin
| Amanita phalloides
118
True or False: The promoter determines where transcription ends.
False
118
Where is tRNA located?
In cytoplasm
119
What does tRNA have at 3' end?
ACC
120
Where is rRNA located?
In nucleolus
121
What's the function of ACC on tRNA?
იკავშირებს ამინომჟავას
122
True or False: tRNA contains 75-90 nucleotics
True
| Smallest RNA
123
Eukaryotes ribosomal subunits
40S + 60S -> 80S
124
Prokaryotes ribosomal subunits
30S + 50S -> 70S
125
Release factor (eRF)
საჭიროა ცილის სინთეზის შესაჩერებლად, ამოიცნობს/წაიკითხავს stop codone ს mRNAზე.
126
Karyotyping
ქრომოსომების რაოდენობის განსაზღვრა.
Used to diagnose chromosomal imbalances.
127
What is the reason for subfertility in females with cystic fibrosis?
Amenorrhea and thick cervical mucus
128
What is the cause of infertility in males with cystic fibrosis?
Absence of the vas deferens
129
What complications occur in the gastrointestinal tract as a result of pancreatic insufficiency and biliary cirrhosis in patients with cystic fibrosis?
Deficiencies of the fat-soluble vitamins (A, D, E, and K) and malabsorption with steatorrhea
130
What diagnosis is suggested if a newborn screening test reveals increased immunoreactive trypsinogen?
Cystic fibrosis
131
Which pathogens commonly cause recurrent pulmonary infections in infants/children with cystic fibrosis?
Staphylococcus aureus
132
Which pathogens commonly cause recurrent pulmonary infections in adults with cystic fibrosis?
Pseudomonas aeruginosa
133
In cystic fibrosis, how does a decrease in chloride secretion cause thick mucus production in the lungs and gastrointestinal tract?
Low Cl− secretion → compensatory Na+ reabsorption → ↑ H2O reabsorption → abnormally thick mucus in lungs and GI tract
134
What does the CFTR gene code for?
Cl−channel that secretes Cl−into the lungs and GI tract and reabsorbing Cl− in sweat glands
135
What genetic defect causes cystic fibrosis?
| on which chromosome?
CFTR gene defect on chromosome 7 (autosomal recessive disorder)
136
What is the mechanism of action of ivacaftor in cystic fibrosis patients?
Acts as potentiator, by maintaining the chloride channels open leading to improved chloride transport
137
What is the mechanism of action of lumacaftor or tezacaftor in patients with cystic fibrosis?
Corrects CFTR protein form, improving transport of the proteins to the cell membrane
138
What is the treatment for severe malnutrition and steatorrhea due to cystic fibrosis?
Pancreatic enzyme replacement (pancrelipase)
139
What is the test that is commonly used to diagnose cystic fibrosis?
Sweat test revealing increased chloride concentration
140
Which type of collagen is deficient in osteogenesis imperfecta?
Type I
141
What type of collagen is abundant in cartilage?
Type II
142
Which type of collagen is deficient in Ehlers-Danlos syndrome?
Type III and V
143
Compare the type of collagen found in early versus late wound repair.
Type III early
Type I late
144
Which type of collagen composes the basement membrane of cells?
Type IV
145
What disease is caused by a defect in the crosslinking of collagen and elastin?
Menkes disease
146
Where does collagen synthesis mainly occur inside the cell?
Rough endoplasmic reticulum (RER)
147
What are the 3 key amino acids that compose collagen?
Glycine, lysine, proline
148
Which disease may result from the failure to form procollagen (triple helix)?
Osteogenesis imperfecta
149
Which enzyme and cofactor are required for the cross-linking of tropocollagen molecules?
Lysyl oxidase and copper
150
What causes poor dentition, blue sclerae, hearing loss, and deformities after minimal trauma?
osteogenesis imperfecta
151
What are the 4 key features of osteogenesis imperfecta?
multiple fractures, blue sclerae, dental imperfections, hearing loss
152
Ehlers-Danlos syndrome is due to a defect in what process?
Collagen synthesis
| Type 3 and 5
153
What syndrome is associated with hypermobile joints, hyperextensible skin, easy bruising, organ rupture, berry and aortic aneurysms?
Ehlers-Danlos syndrome
154
What enzyme activity is decreased in Menkes disease?
Lysyl oxidase
155
Which connective tissue disease is the result of a mutation in the ATP7A gene?
Menkes disease
156
What is the diagnosis for a child with brittle, “kinky” hair, hypotonia, delays in growth and development, and an ↑ risk for cerebral aneurysms?
Menkes disease
157
Which enzyme is inhibited by α1-antitrypsin?
Elastase, which degrades elastin
158
Which stretchable protein is abundantly found in vocal cords, epiglottis, lungs, large arteries, elastic ligaments, skin, and ligamenta flava?
Elastin
159
Which enzyme and cofactor are necessary for the extracellular cross-linking of elastin and collagen proteins to their mature forms?
Lysyl oxidase and copper
160
Compare IQ and lens dislocation direction in Marfan syndrome vs homocystinuria.
↓ IQ, downward/nasal lens dislocation in Homocystinuria.
normal IQ, upward/temporal lens dislocation in Marfan syndrome
161
Compare the inheritance pattern for Marfan syndrome vs homocystinuria.
Marfan syndrome = autosomal dominant
homocystinuria = autosomal recessive
162
Which three modes of inheritance exhibit no father-to-son transmission?
X-linked recessive, X-linked dominant, and mitochondrial inheritance
163
Defects in structural genes are often associated with which inheritance pattern?
Autosomal dominant
164
What are the typical findings seen in myotonic dystrophy?
Cataracts, Toupee (early balding in men), Gonadal atrophy (CTG trinucleotide repeat)
165
What is the disease mechanism of myotonic dystrophy?
CTG trinucleotide repeat leading to abnormal expression of myotonin protein kinase
166
What is the inheritance pattern of myotonic dystrophy?
Autosomal dominant
167
What is the genetic mechanism that causes Becker muscular dystrophy?
Non-frameshift deletion in the dystrophin gene
168
At what age does Becker muscular dystrophy present?
Adolescence or early adulthood, 5+
169
What is the most common cause of death in patients with Duchenne muscular dystrophy?
Dilated cardiomyopathy
170
What is the function of dystrophin?
Dystrophin anchors muscle fibers to the extracellular matrix, particularly in skeletal and cardiac muscles
171
In Duchenne muscular dystrophy, which group of muscles show weakness?
Weakness starts in the pelvic girdle muscles
172
Which gene is mutated in Duchenne muscular dystrophy?
The dystrophin (DMD) gene
173
Which 2 types of mutations can occur and result in Duchenne muscular dystrophy?
Frameshift deletion or nonsense mutation
174
What is the pathophysiology of Duchenne muscular dystrophy?
Loss of dystrophin protein causes myofiber damage and necrosis (myonecrosis)
175
At what age do patients typically present with Duchenne muscular dystrophy?
Before the age of 5
176
What is the probable diagnosis of a child with “elfin” facies, intellectual disability, notable friendliness with strangers, hypercalcemia, and cardiovascular problems?
Williams syndrome
177
What chromosomal abnormality is the cause of Williams syndrome?
Microdeletion of long arm of chromosome 7
178
What chromosomal abnormality is cause of cri-du-chat syndrome?
Short-arm deletion of chromosome 5
179
What is the genetic syndrome associated with high-pitched crying, microcephaly, epicanthal folds, cardiac abnormalities, and intellectual disability?
Cri-du-chat syndrome
180
What is a Robertsonian translocation?
The fusion of the long arms of 2 acrocentric chromosomes at the centromeres, resulting in the loss of the 2 short arms
181
Which 2 trisomy disorders may present with severe intellectual disability, rocker-bottom feet, and congenital heart disease?
Trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome)
182
Which 2 gastrointestinal diseases are associated with Down syndrome?
Hirschsprung disease and duodenal atresia
183
What fetal changes observed on a first-trimester ultrasound exam suggest a diagnosis of Down syndrome?
Hypoplastic nasal bone and increased nuchal translucency
184
What is the life expectancy of children born with either trisomy 13 or trisomy 18?
< 1 year
185
Which autosomal trisomy is associated with Patau syndrome?
Trisomy 13
186
Which autosomal trisomy is associated with Edwards syndrome?
Trisomy 18
187
Which autosomal trisomy is associated with Down syndrome?
Trisomy 21
188
What are the prenatal screening markers for Down syndrome?
High hCG and high inhibin levels
189
What is the probable diagnosis of a newborn presenting single palmar crease, incurved 5th finger, a gap between the first 2 toes, flat facies, and prominent epicanthal folds?
Down syndrome (trisomy 21)
190
Which hematologic malignancies are associated with Down syndrome?
Acute lymphoblastic leukemia (ALL) and acute myelogenous leukemia (AML)
191
What are 2 other causes for Down syndrome that occur less commonly than meiotic nondisjunction?
Unbalanced Robertsonian translocation (between chromosomes 14 and 21)
postfertilization mitotic errors
192
What are the 5 A′s of Down syndrome?
Advanced maternal age, Atresia (duodenal), Atrioventricular septal defect, Alzheimer disease (early onset), and AML/ALL
193
What are the major findings seen in Edwards syndrome (trisomy 18)?
Prominent occiput, Rocker-bottom feet, Intellectual disability, Nondisjunction, Clenched fists with overlapping fingers, low-set Ears (PRINCE)
194
Which trisomy is associated with microcephaly, microphthalmia, cleft palate, cutis aplasia, holoprosencephaly, an extra digit, polycystic kidney disease, and omphalocele?
Patau syndrome (trisomy 13)
195
What is the underlying genetic cause of fragile X syndrome?
Trinucleotide (CGG) repeats in FMR1 gene
196
What is the mode of inheritance of fragile X syndrome?
X-linked dominant
197
What are the clinical manifestations of fragile X syndrome when there is a full mutation (>200 trinucleotide repeats)?
Long face, large jaw, large everted ears, mitral valve prolapse, hypermobile joints, autism, and postpubertal macroorchidism
198
What are the clinical manifestations of fragile X syndrome when there is a premutation (50-200 trinucleotide repeats)?
Ataxia, tremor, primary ovarian insufficiency
199
Which symptom often observed in patients with fragile X syndrome might be confused with Lesch-Nyhan syndrome?
Self-mutilation
200
Name 2 common mitochondrial myopathies.
Mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS)
Myoclonic epilepsy with ragged red fibers (MERRF)
201
What genetic mutation occurs in Leber hereditary optic neuropathy?
Mutations in complex I of the electron transport chain results in neuronal death in retina and optic nerve with subacute bilateral vision loss
202
Between what ages does Rett syndrome usually manifest?
After 6-18 months of age (normal initial development), usually before 4 years
203
What are the common clinical manifestations of Rett syndrome?
გავს autism ს.
Stereotypic hand-wringing
204
Function of peroxisome
დაშლა
Beta-oxidation of long-chain fatty acids
Alpha-oxidation of branched-chain fatty acids
Amino acids and ethanol catabolism
Synthesis of bile acids and plasmalogens (phospholipid in white matter)
205
Adrenoleukodystrophy
X-linked recessive, disorder of beta-oxidation -> buildup of fatty acids in adrenal gland, white matter and testes.
იწვევს adrenal crisis, loss of neurological function, death.
USMLE STEP 1 (RX)
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