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What is Hamartin?

What is Hamartin?

Hamartin is a 1,164-amino-acid/130 KDa tumor suppressor protein expressed in most human tissues (Plank et al., 1999; Johnson et al., 2001). It is hydrophilic and has transmembrane domains at amino acids 127–144 and within its coiled-coil region at residues 719–998 (Nellist et al., 1999).

What is the TSC1 gene?

The TSC1 gene provides instructions for producing a protein called hamartin. Within cells, hamartin interacts with a protein called tuberin, which is produced from the TSC2 gene. These two proteins help control cell growth and division (proliferation) and cell size.

What is hamartin and tuberin?

Tumour suppressors hamartin and tuberin, encoded by tuberous sclerosis complex 1(TSC1) and TSC2 genes, respectively, are critical regulators of cell growth and proliferation. Mutations in TSC1 and TSC2 genes are the cause of an autosomal dominant disorder known as tuberous sclerosis complex (TSC).

How do you test for tuberous sclerosis?

Tests for tuberous sclerosis a skin examination – to look for abnormal growths or patches of pale or thickened skin. an MRI scan – to detect tumours in the brain or kidneys. a CT scan or ultrasound scan – to detect tumours in the kidneys, heart or lungs.

What is TSC1 and TSC2?

TSC1 and TSC2 are disease genes for tuberous sclerosis complex (TSC), a neurocutaneous disorder in which hamartomas and other benign tumors form in many organs including brain, skin, and kidneys. Neurological manifestations including autism, intellectual disability, and epilepsy are also common.

Where is the TSC1 gene located?

Chromosome 9

Gene location (Human)
Chr. Chromosome 9 (human)
Band 9q34.13 132,891,348 bp
132,946,874 bp

Is TSC a disability?

The Social Security Administration (SSA) doesn’t have a dedicated disability listing for tuberous sclerosis. However, patients suffering from debilitating symptoms of their tuberous sclerosis may still qualify for benefit payments.

What activates TSC1?

Stress signalling through p38 and MAPKAP kinase-2 However, conditions of cellular stress, which often activate p38, would be predicted to activate the TSC1–TSC2 complex to inhibit mTORC1 signalling.

What is the difference between TSC1 and TSC2?

The main difference between TSC1 and TSC2 is that TSC1 or hamartin is a protein expressed in some of the adult tissues, and mainly involves in cell adhesion whereas TSC2 or tuberin is a protein responsible for regulating cell growth, proliferation and differentiation.

How long can you live with tuberous sclerosis?

Patients with tuberous sclerosis complex (TSC) have a life expectancy of 31.2 years and a 5-fold increased standardized mortality rate, both of which were worsen in the late disease onset group associated with renal diseases.

How does TSC affect the brain?

Certain tumors, called subependymal giant cell astrocytomas, or SEGAs, can grow in the brain of people with TSC and may block the flow of cerebrospinal fluid in the spaces (ventricles) in the brain. This blockage can lead to behavioral changes, nausea, headaches or a number of other symptoms.

Can tuberous sclerosis be cured?

There is no cure for tuberous sclerosis, but there is a range of treatments for many of the problems caused by the condition.

How long do you live with tuberous sclerosis complex?

How is TSC diagnosed?

Diagnosis of the disorder is based on a careful clinical exam in combination with computed tomography (CT) or magnetic resonance imaging (MRI) of the brain—which may show tubers in the brain, and an ultrasound of the heart, liver, and kidneys, which may show tumors in those organs.

Is tuberous sclerosis a disability?

Is TSC life threatening?

All individuals with TSC are at risk for life-threatening conditions related to the brain tumors, kidney lesions, or LAM. Continued monitoring by a physician experienced with TSC is important. With appropriate medical care, most individuals with the disorder can look forward to normal life expectancy.

Is tubular sclerosis a disability?

You can apply for Social Security disability benefits with tuberous sclerosis. When the SSA considers your claim, the main determining factor will be the severity of your symptoms. You may also qualify for SSI if you have a dependent child who has TSC and you are in sufficient financial need.

Does tuberous sclerosis qualify for disability?

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