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Neurodegeneration With Brain Iron Accumulation
Neurodegeneration with brain iron accumulation is a heterogenous group of inherited neurodegenerative diseases, still under research, in which iron accumulates in the basal ganglia, either resulting in progressive dystonia, Parkinsonism, spasticity, optic atrophy, retinal degeneration, neuropsychiatric, or diverse neurologic abnormalities. Some of the NBIA disorders have also been associated with several genes in synapse and lipid metabolism related pathways. NBIA is not one disease but an entire group of disorders, characterized by an accumulation of brain iron, sometimes in the presence of axonal spheroids in the central nervous system. Iron accumulation can occur anywhere in the brain, with accumulation typically occurring in globus pallidus, substantia nigra, pars reticula, striatum and cerebellar dentate nuclei. Symptoms can include various movement disorders, neuropsychiatric issues, seizures, visual disturbances, and cognitive decline, usually in different combinations. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurodegenerative Disease
A neurodegenerative disease is caused by the progressive loss of structure or function of neurons, in the process known as neurodegeneration. Such neuronal damage may ultimately involve cell death. Neurodegenerative diseases include amyotrophic lateral sclerosis, multiple sclerosis, Parkinson's disease, Alzheimer's disease, Huntington's disease, multiple system atrophy, and prion diseases. Neurodegeneration can be found in the brain at many different levels of neuronal circuitry, ranging from molecular to systemic. Because there is no known way to reverse the progressive degeneration of neurons, these diseases are considered to be incurable; however research has shown that the two major contributing factors to neurodegeneration are oxidative stress and inflammation. Biomedical research has revealed many similarities between these diseases at the subcellular level, including atypical protein assemblies (like proteinopathy) and induced cell death. These similarities suggest that t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Deferiprone
Deferiprone, sold under the brand name Ferriprox among others, is a medication that chelates iron and is used to treat iron overload in thalassaemia major. It was first approved and indicated for use in treating thalassaemia major in 1994 and had been licensed for use in the European Union for many years while awaiting approval in Canada and in the United States. On October 14, 2011, it was approved for use in the US under the FDA's accelerated approval program. The most common side effects include red-brown urine (showing that iron is being removed through the urine), nausea (feeling sick), abdominal pain (stomach ache) and vomiting. Text was copied from this source which is © European Medicines Agency. Reproduction is authorized provided the source is acknowledged. Less common but more serious side effects are agranulocytosis (very low levels of granulocytes, a type of white blood cell) and neutropenia (low levels of neutrophils, a type of white blood cell that fights infec ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-linked Dominant Inheritance
X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome. As an inheritance pattern, it is less common than the X-linked recessive type. In medicine, X-linked dominant inheritance indicates that a gene responsible for a genetic disorder is located on the X chromosome, and only one copy of the allele is sufficient to cause the disorder when inherited from a parent who has the disorder. In this case, someone who expresses an X-linked dominant allele will exhibit the disorder and be considered affected. X-linked dominant traits do not necessarily affect males more than females (unlike X-linked recessive traits). The exact pattern of inheritance varies, depending on whether the father or the mother has the trait of interest. All fathers that are affected by an X-linked dominant disorder will have affected daughters but not affected sons. However, if the mother is also affecte ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
WDR45
WD repeat domain phosphoinositide-interacting protein 4 (WIPI-4) is a protein that in humans is encoded by the ''WDR45'' gene. Mutations in this gene cause a distinct form of ''Neurodegeneration with brain iron accumulation'' (NBIA) called Beta-propeller protein-associated neurodegeneration (BPAN). Function WIPI-4 is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene WDR45 has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined. Role in d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Beta-propeller Protein-associated Neurodegeneration
WD repeat domain phosphoinositide-interacting protein 4 (WIPI-4) is a protein that in humans is encoded by the ''WDR45'' gene. Mutations in this gene cause a distinct form of ''Neurodegeneration with brain iron accumulation'' (NBIA) called Beta-propeller protein-associated neurodegeneration (BPAN). Function WIPI-4 is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene WDR45 has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined. Role in d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mitochondrial Membrane Protein-associated Neurodegeneration
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a genetic neurodegenerative disease that causes dystonia, parkinsonism, and iron accumulation in the brain. It is caused by mutations to the gene ''C19orf12'', which has unknown function. This was originally discovered as an autosomal recessive disorder, caused by individuals having two mutations to the gene ''C19orf12'', but autosomal dominant disease caused by a single mutation in the same gene has also been rarely described. Due to the common features of neurodegeneration, brain iron accumulation, and movement disorder it is classified as a neurodegeneration with brain iron accumulation (NBIA) disorder and another name for the condition is neurodegeneration with brain iron accumulation 4 (NBIA4). Signs and symptoms Symptoms typically begin in childhood and worsen over time. Typical initial features include difficulty walking and dystonia, with later progression to difficulty moving called parkinsonism. Associa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PLA2G6
85 kDa calcium-independent phospholipase A2, also known as 85/88 kDa calcium-independent phospholipase A2, Group VI phospholipase A2, Intracellular membrane-associated calcium-independent phospholipase A2 beta, or Patatin-like phospholipase domain-containing protein 9 is an enzyme that in humans is encoded by the ''PLA2G6'' gene. Structure The ''PLA2G6'' gene is located on the p arm of chromosome 22 at position 13.1 and it spans 80,605 base pairs. The ''PLA2G6'' gene produces an 18.6 kDa protein composed of 166 amino acids. The resulting protein's structure has been shown to contain a lipase motif and 8 ankyrin repeats. Different from rodent PLA2G6, which is known to share 90% overall amino acid sequence identity with that of the humans, the human PLA2G6 protein contains a 54-residue insertion which codes for a proline-rich region. This insertion has been shown to disrupt the last putative ankyrin repeat, as well as function as a linker region that segregates the N-termina ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PLA2G6-associated Neurodegeneration
PLA may refer to: Organizations Politics and military * People's Liberation Army, the armed forces of China and of the ruling Chinese Communist Party * People's Liberation Army (other) ** Irish National Liberation Army, formerly called the People's Liberation Army ** People's Liberation Army (Lebanon) ** People's Liberation Army of Manipur, India * Palestine Liberation Army, the military wing of the Palestine Liberation Organization * ProLife Alliance, a former UK political party Other organizations * Pacific Locomotive Association, operator of the Niles Canyon Railway in California, US * Pakistan Library Association * Pediatric Leadership Alliance, of the American Academy of Pediatrics * Phone Losers of America, a US phone phreaking group * Port of London Authority, England * Pre-school Learning Alliance, England * Public Library Association, a US professional association Science and technology * Principle of least astonishment, a principle in software design * Progra ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dominance (genetics)
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosome
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosome, allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid human genome, genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations of XYY syndrome, XYY, Klinefelter syndrome, XXY, Triple X syndrome, XXX, XXXX syndrome, XXXX, XXXXX syndrome, XXXXX or XXYY syndrome, XXYY, among Aneuploidy, other Salome combinations, are known to occur and usually cause developmental abnormalities. Autosomes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PANK2 (gene)
Pantothenate kinase 2, mitochondrial is an enzyme that in humans is encoded by the ''PANK2'' gene. This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and Pantothenate kinase-associated neurodegeneration (PKAN). Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoform A protein isoform, or "protein variant", is a member of a set of highly similar proteins that originate from a single gene or gene family and are the result of genetic differences. While many perform the same or s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
