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person is highly sensitive to sunlight, has premature skin ageing and is prone to developing skin cancers. 

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person is highly sensitive to sunlight, has premature skin ageing and is prone to developing skin cancers. 

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impaired nucleotide excision repair (NER) system

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impaired nucleotide excision repair (NER) system

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no cure for xeroderma pigmentosum. Gene therapy for xeroderma pigmentosum is a possible future avenue

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no cure for xeroderma pigmentosum. Gene therapy for xeroderma pigmentosum is a possible future avenue

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HD is typically inherited from an affected parent, who carries a mutation in the huntingtin gene (HTT). However, up to 10% of cases are due to a new mutation.

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Trinucleotide repeat expansion

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Expansion of CAG repeats of cytosine-adenine-guanine (known as a trinucleotide repeat expansion) in the gene coding for the huntingtin protein results in an abnormal mutant protein (mHtt), which gradually damages brain cells.

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caused due to multiple trinucleotide CAG repeats on the chr4 at loci 4p16.3

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caused due to multiple trinucleotide CAG repeats on the chr4 at loci 4p16.3

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Fragile X syndrome caused by an abnormality (mutation) in the FMR1 gene.

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Fragile X syndrome caused by an abnormality (mutation) in the FMR1 gene.

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Huntington disease is an autosomal dominant mutation, having a change in one of the 2 copies in HTT gene that causes the condition

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Huntington disease is an autosomal dominant mutation, having a change in one of the 2 copies in HTT gene that causes the condition

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•Depression
•Difficulty moving
•Mood swings and personality changes
•Problems in swallowing, speaking and breathing.

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HTT mutation - CAG trinucleotide repeat JS

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Involuntary movements/chorea
Muscle dystonia
Impaired posture/balance
Difficulty with speech/swallowing

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Hemochromatosis - type 1 substitution mutation in HFE gene, type 2 in HJV/HAMP, type 3 in TFR2 gene, and type 4 in SLC40A1 gene

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Inherited from affected parents

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No cure for HD is known, and full-time care is required in the later stages. Treatments can relieve some symptoms, and in some, improve quality of life.

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Caused by A methylation to the FMR1 gene which causes the resulting FMRP protein to be deficient.

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HD symptoms- difficulty concentrating and memory lapses, Depression, stumbling and clumsiness, mood swings and personality changes, involuntary jerking, problems swallowing, speaking and breathing, difficulty moving

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HD symptoms- difficulty concentrating and memory lapses, Depression, stumbling and clumsiness, mood swings and personality changes, involuntary jerking, problems swallowing, speaking and breathing, difficulty moving

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Uncontrollable body movements called chorea
rigidity
writhing motions
abnormal posturing

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mutation in the HTT gene via Repeat expansion.

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mutation in the HTT gene via Repeat expansion.

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Hemochromatosis - Joint pain, abdominal pain, weight loss, chronic fatigue, impotence, jaundice, arrhythmia, alopecia.

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Mostly caused by a mutation in the HTT gene - involving a DNA segment known as CAG trinucleotide repeat.

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There is no cure for Huntington's disease

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Clumsiness
Loss of short term memory
Mood swings
Depression
Aggressive behaviour
Difficulty in speech and swallowing

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depression
poor coordination
irritability

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Involuntary movements
Depression
Stumbling and difficulty moving
Personality alterations and mood swings

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Trinucleotide CAG repeats numbering over 28 are unstable during replication, and this instability increases with the number of repeats present.

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Person has trouble learning skills like walking, sitting, etc.
Extreme sensitivity to light or sound.
Anxiety.
Hyperactivity.

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Fragile X syndrome has no actual cure however, educational, behaviour and physical therapy and medicines can be opted for treatment.

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Fragile X syndrome has no actual cure however, educational, behaviour and physical therapy and medicines can be opted for treatment.

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Motor and cognitive disfunction , psychiatric symptoms, physical symptoms like tremor , chorea

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Motor and cognitive disfunction , psychiatric symptoms, physical symptoms like tremor , chorea

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base excision repair mechanism

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Difficulty concentrating and memory lapses, depression, stumbling and clumsiness, moody swings and personality changes , involuntary jerking, fidgety movements of the limbs and body, problems swallowing

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HD occurs as a result of an alteration in HTT gene. and the result mutagene is passed from one generation to another.

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HD occurs as a result of an alteration in HTT gene. and the result mutagene is passed from one generation to another.

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DNA mismatch repair

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Difficulty to concentrate,
Problems in swallowing, speaking and breathing. Stumbling and clumsiness

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C282Y and H63D mutations in HFE gene

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-severe sunburn
- freckling
- dry skin
- nervous system problems (e.g. hearing loss, seizure, etc.)
- cataracts

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Weight loss, weakness, fatigue

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An increase in the reaction of ROS to damage the HTT gene.

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mutation in HFE on the short arm of chr 6

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No cure, however there are medications to keep the symptoms under control such as tetrabenazine, antipsychotic drugs, antidepressants and tranquillisers

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Hemochromatosis - No cure, but gene therapy is available. Therapy aims to reduce DMT-1 transporter gene expression, inhibiting iron uptake in the gut.

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In Fragile x male child has behavioral problem, developmental problem with walking...

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In Fragile x male child has behavioral problem, developmental problem with walking...

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Mutation inthe FMR1gene causes Fragile X syndrome

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Mutation inthe FMR1gene causes Fragile X syndrome

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Huntingtin repair complex is impaired and which usually excises products of oxidative DNA damage. Expanded huntingtin accumulates adducts and cannot excise N6FFA

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damaging the ubiquitin-protease system

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no certain treatment. only preventing symptoms via avoiding UV

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no cure currently, care and support can help reduce the problems caused by the condition.

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Fragile X syndrome             stuttering, developmental delays, intellectual and learning disabilities* general or social anxiety* autism* impulsiveness  

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Fragile X syndrome             stuttering, developmental delays, intellectual and learning disabilities* general or social anxiety* autism* impulsiveness  

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Phlebotomy

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FXS is caused by a defect in the FMR1 gene located on the X chromosome.

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FXS is caused by a defect in the FMR1 gene located on the X chromosome.

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Is a genetic condition that causes a range of developmental problems, especially learning disabilities and cognitive impairment.

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CF- germline mutation, faulty gene that affects the movement salt and water in and out of the cells

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CF- germline mutation, faulty gene that affects the movement salt and water in and out of the cells

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•Joint pain
•Weekness
•Weight loss

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Base Excision Repair
DNA mismatch repair
Down regulation of DNA damage pathway transcripts.

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Mismatch Repair
Somatic CAG Expansion
NER
Base excision repair uses enzymes like DNA Polymerase β, Flap endonuclease 1 and DNA ligase in preventing strand slippage and trinucleotide-repeat expansion

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CF- chest infection, difficulty putting on weight, malnutrition, Jaundice, diarrhea, constipation

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CF- chest infection, difficulty putting on weight, malnutrition, Jaundice, diarrhea, constipation

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DNA methylation leads to DNA repair down regulation and trinucleotide instability in mitotically activated Huntington disease cells

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DNA methylation leads to DNA repair down regulation and trinucleotide instability in mitotically activated Huntington disease cells

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Base excision repair, nucleotide excision repair

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CF- treatment can help with symptoms but no cure yet

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CF- treatment can help with symptoms but no cure yet

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Anxiety
Extreme sensitivity to light or sound
Difficulty in learning skills like walking, sitting

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1. Normal: Individuals with less than 45 CGG repeats have a normal FMR1 gene.

2. Intermediate: Those with 45-54 CGG repeats have what is called an “intermediate” or “gray zone allele,” which does not cause any of the known Fragile X associated disorders.

3. Premutation: Individuals with 55-200 CGG repeats have a premutation, which means they carry an unstable mutation of the gene that can expand in future generations and thus cause Fragile X syndrome in their children or grandchildren. Individuals with a premutation can also develop FXTAS or FXPOI themselves.

4. Full Mutation: Individuals with over 200 CGG repeats have a full mutation of the FMR1 gene, which causes Fragile X syndrome.

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Early symptoms include irritability, depreesion, memory lapses, mood swings

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Early symptoms include irritability, depreesion, memory lapses, mood swings

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There is no cure for Huntington disease, tetrabenazine was used to treat the disease like chorea

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There is no cure for Huntington disease, tetrabenazine was used to treat the disease like chorea

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Hyperactive, Anxiety, difficulty focusing on specific thing.

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Hyperactive, Anxiety, difficulty focusing on specific thing.

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Hemochromatosis symptoms include:

Joint pain.

Abdominal pain.

Fatigue.

Weakness.

Diabetes.

Impotence.

Heart failure.

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The mutation occurs in HFE gene on the short arm of chromosome 6

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Haemochromatosis treatments that can reduce the amount of iron in your body such as Phlebotomy and Chelation therapy.

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Hemochromatosis involves point mutation in the HFE gene on the short arm of chromosome 6. Most patients have a substitution of tyrosine for cysteine at position 282 (C282Y).

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CF- gene edting, however, method is challenging and low success rate

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CF- gene edting, however, method is challenging and low success rate