Term
| Patient: generalized muscle weakness, ataxia, seizures, cardiac and respiratory failure |
|
Definition
| Myoclonic epilepsy with ragged red fibers (MERRF) |
|
|
Term
| Muscle biopsy shows aggregates of abnormal mitochondria, giving a ragged appearance to red muscle fibers. |
|
Definition
| Myoclonic epilepsy with ragged red fibers (MERRF) |
|
|
Term
| Caused by a point mutation in a mitochondrial DNA gene encoding tRNA for lysine, resulting in deficiency in 2 complexes (I and IV) in the oxidative phosphorylation chain. |
|
Definition
| Myoclonic epilepsy with ragged red fibers (MERRF) |
|
|
Term
| Muscles and neurons most affected due to dependence on oxidative phosphorylation. |
|
Definition
| Myoclonic epilepsy with ragged red fibers (MERRF) |
|
|
Term
| Delayed bilateral loss of vision which could lead to total blindness due to degeneration of the optic nerve. |
|
Definition
| Leber’s Hereditary Optic Neuropathy (LHON) |
|
|
Term
| Early signs are localized collection of distended blood capillary vessels around the start of the optic nerve which connects the eye balls to the cortex of the occipital lobes of the brain. |
|
Definition
| Leber’s Hereditary Optic Neuropathy (LHON) |
|
|
Term
| Base changes of this disease affect a single codon in the gene for a protein in the electron transport pathway (protein is still fxnal but not as efficient). |
|
Definition
| Leber’s Hereditary Optic Neuropathy (LHON) |
|
|
Term
| Caused by a mutation in the GNPTA gene that leads to a deficiency in the enzyme UDP-N-acetylglucoseamine-1-phosphotransferase which catalyzes the first step in the tagging of lysosomal enzymes with mannose-6-phosphate in the Golgi apparatus. |
|
Definition
|
|
Term
| Caused by a failure of the Golgi apparatus to tag through phosphorylation all the hydrolytic enzymes that are suppose to be transported from the Golgi apparatus to the lysosome. |
|
Definition
|
|
Term
| Leads to elevated lysosomal enzymes in the serum. |
|
Definition
|
|
Term
| Patient: coarse facial features, skeletal abnormalities and mental retardation. Symptoms in infancy and may include multiple abnormalities of the skull and face and growth delays. |
|
Definition
|
|
Term
| Caused by a genetic defect that prevents the formation of an essential enzyme that breaks down complex lipids called gangliosides. Accumulation of these lipids damages the nervous system. |
|
Definition
|
|
Term
| Patient: mental retardation and death in early childhood due to accumlation of gangliosides. |
|
Definition
|
|
Term
| Escape of lysosome enzymes cause |
|
Definition
| Arthritis inflammation and pain |
|
|
Term
| Caused by a failure to synthesize an enzyme (alpha-L-iduronidase) needed to break down proteoglycans like heparan sulfate. |
|
Definition
| Mucopolysaccharidosis I (MPS-I). |
|
|
Term
| Results from a failure to metabolize fatty acids properly causing deterioration of the myelin sheaths of neurons. |
|
Definition
| X-linked adrenoleukodystrophy (X-ALD |
|
|
Term
|
Definition
| X-linked adrenoleukodystrophy (X-ALD |
|
|
Term
| This disorder results from the inheritance of two mutant genes for one of the receptors (PXR1) needed to import proteins into the peroxisome. |
|
Definition
|
|
Term
| A rare chronic lung disease that occurs when cilia are unable to move. |
|
Definition
|
|
Term
| AKA Primary Ciliary Dyskinesia or Immotile Cilia Syndrome or Afzelius's syndrome, Kartagener's triad, Zivert's syndrome and Zivert-Kartagener triad |
|
Definition
|
|
Term
| Patient: chronic rhinitis, recurrent/chronic sinusitis, recurrent/chronic bronchitis, bronchiectasis, olfactory impairment, and infertility. |
|
Definition
|
|
Term
| Characterized by skin blisters after minor trauma |
|
Definition
| Epidermolysis bullosa simplex (EBS) |
|
|
Term
| Fungal toxin that binds to the (+) end of Actin filaments to block their elongation. This results in inhibition of cell movements, like cell division. |
|
Definition
|
|
Term
| This metabolite causes the break up of filaments. |
|
Definition
|
|
Term
| This drug binds tightly to AFs and prevents their dissociation into individual actin molecules (stabilizing AF). |
|
Definition
|
|
Term
| Controls actin depolymerization by enhancing the rate of dissociation of actin monomers from the (-) ends. |
|
Definition
|
|
Term
| Binds to ADP-actin, remaining bound to actin monomers following filament disassembly & sequesters them in ADP-bound form, preventing their re-incorporation into filaments. |
|
Definition
|
|
Term
| Stimulates the exchange of ADP to ATP, resulting in ATP-actin monomers that can be repolymerized into filaments, including new filaments nucleated by ARP2/3 proteins. |
|
Definition
|
|
Term
| Can reverse the effect of cofilin and stimulate incorporation of actin monomers in filaments |
|
Definition
|
|
Term
| Point mutations of K1 and K10 |
|
Definition
|
|
Term
| Patient: chronic lysis of suprabasal layers leading to enhanced basal cell proliferation rate resulting in scaly skin |
|
Definition
|
|
