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Finnish Heritage Disease
A Finnish heritage disease is a genetic disease or disorder that is significantly more common in people whose ancestors were ethnic Finns, natives of Finland and Sweden ( Meänmaa) and Russia ( Karelia and Ingria). There are 36 rare diseases regarded as Finnish heritage diseases. The diseases are not restricted to Finns; they are genetic diseases with far wider distribution in the world, but due to founder effects and genetic isolation they are more common in Finns. Within Finland these diseases are more common in the east and north, consistent with their higher association with ethnic Finns than with ethnic Swedes. The Finnish disease heritage does not extend to other ethnic groups in the region, the Sámi and Karelians other than Finnish Karelians. It is attributed to a population bottleneck among ancestors of modern Finns, estimated to have occurred about 4000 years ago, presumably when populations practicing agriculture and animal husbandry arrived in Finland. In Finlan ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Finns
Finns or Finnish people ( fi, suomalaiset, ) are a Baltic Finnic ethnic group native to Finland. Finns are traditionally divided into smaller regional groups that span several countries adjacent to Finland, both those who are native to these countries as well as those who have resettled. Some of these may be classified as separate ethnic groups, rather than subgroups of Finns. These include the Kvens and Forest Finns in Norway, the Tornedalians in Sweden, and the Ingrian Finns in Russia. Finnish, the language spoken by Finns, is closely related to other Balto-Finnic languages, e.g. Estonian and Karelian. The Finnic languages are a subgroup of the larger Uralic family of languages, which also includes Hungarian. These languages are markedly different from most other languages spoken in Europe, which belong to the Indo-European family of languages. Native Finns can also be divided according to dialect into subgroups sometimes called ''heimo'' (lit. ''tribe''), although suc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Molecular Genetics
Molecular genetics is a sub-field of biology that addresses how differences in the structures or expression of DNA molecules manifests as variation among organisms. Molecular genetics often applies an "investigative approach" to determine the structure and/or function of genes in an organism's genome using genetic screens. The field of study is based on the merging of several sub-fields in biology: classical Mendelian inheritance, Cell biology, cellular biology, molecular biology, biochemistry, and biotechnology. Researchers search for mutations in a gene or induce mutations in a gene to link a gene sequence to a specific phenotype. Molecular genetics is a powerful methodology for linking mutations to genetic conditions that may aid the search for treatments/cures for various genetics diseases. History For molecular genetics to develop as a discipline, several scientific discoveries were necessary. The discovery of DNA as a means to transfer the genetic code of life f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Choroideremia
Choroideremia (; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness, followed by peripheral vision loss and progressing to loss of central vision later in life. Progression continues throughout the individual's life, but both the rate of change and the degree of visual loss are variable among those affected, even within the same family. Choroideremia is caused by a loss-of-function mutation in the ''CHM'' gene which encodes Rab escort protein 1 (REP1), a protein involved in lipid modification of Rab proteins. While the complete mechanism of disease is not fully understood, the lack of a functional protein in the retina results in cell death and the gradual deterioration of the retinal pigment epithelium (RPE), photoreceptors and the choroid. As of 2019, there is no treatment for choroideremia; however, retinal gene therapy clinical ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Northern Epilepsy Syndrome
Northern epilepsy syndrome (NE), or progressive epilepsy with mental retardation (EPMR), is a subtype of neuronal ceroid lipofuscinosis and a rare disease that is regarded as a Finnish heritage disease. Unlike most Finnish heritage diseases, this syndrome has been reported only in Finland. The disease is characterized by seizures in early childhood that progressively get worse until after puberty. Once the onset of seizures occurs, mental degradation is seen. This continues into adulthood, even after seizure frequency has decreased. The cause of the disease is a missense mutation on chromosome 8. The creation of a new protein occurs, and the lipid content of the brain is altered because of it. The ratio of the mutation carriers is 1:135. There is nothing that has been found to stop the progression of the disease, but symptomatic approaches, such as the use of benzodiazepines, have helped control seizures. Characteristics Early childhood Northern epilepsy syndrome causes recurre ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Batten Disease
Batten disease is a fatal disease of the nervous system that typically begins in childhood. Onset of symptoms is usually between 5 and 10 years of age. Often, it is autosomal recessive. It is the common name for a group of disorders called the neuronal ceroid lipofuscinoses (NCLs). Although Batten disease is usually regarded as the juvenile form of NCL (or "type 3"), some physicians use the term Batten disease to describe all forms of NCL. Historically, the NCLs were classified by age of disease onset as infantile NCL (INCL), late infantile NCL (LINCL), juvenile NCL (JNCL) or adult NCL (ANCL). At least 20 genes have been identified in association with Batten disease, but juvenile NCL, the most prevalent form of Batten disease, has been linked to mutations in the ''CLN3'' gene. It was first described in 1903. Signs and symptoms Early signs and symptoms of the disorder usually appear around ages 2–10, with gradual onset of vision problems or seizures. Early signs may be subtle p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ceroid Lipofuscinosis, Neuronal
Neuronal ceroid lipofuscinosis is the general name for a family of at least eight genetically separate neurodegenerative lysosomal storage diseases that result from excessive accumulation of lipopigments (lipofuscin) in the body's tissues. These lipopigments are made up of fats and proteins. Their name comes from the word stem "lipo-", which is a variation on lipid, and from the term "pigment", used because the substances take on a greenish-yellow color when viewed under an ultraviolet light microscope. These lipofuscin materials build up in neuronal cells and many organs, including the liver, spleen, myocardium, and kidneys. Signs and symptoms The classic characterization of the group of neurodegenerative, lysosomal storage disorders called the neuronal ceroid lipofuscinoses (NCLs) is through the progressive, permanent loss of motor and psychological ability with a severe intracellular accumulation of lipofuscins, with the United States and Northern European populations having sli ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cartilage–hair Hypoplasia
Cartilage–hair hypoplasia (CHH) is a rare genetic disorder. Symptoms may include short-limbed dwarfism due to skeletal dysplasia, variable level of immunodeficiency, and predisposition to cancer. It was first reported by Victor McKusick in 1965. Signs and symptoms * Short limb dwarfism * Very fine, light hairs and eyebrows * Hyperextensible joints of hand and feet * Abnormalities of spine * Neutropenia * Defective antibody and cell mediated immunity Genetics CHH is an autosomal recessive inherited disorder. It is a highly pleiotropic disorder. A rarely encountered genetic phenomenon, known as uniparental disomy (a genetic circumstance where a child inherits two copies of a chromosome from one parent, as opposed to one copy from each parent) has also been observed with the disorder. An association between mutations near or within the ncRNA component of RNase MRP, RMRP, has been identified. The endoribonuclease RNase MRP is a complex of RNA molecule and several proteins and it ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autoimmune Polyendocrinopathy Syndrome, Type I
Autoimmune polyendocrine syndrome type 1 (APS-1), is a subtype of autoimmune polyendocrine syndrome (autoimmune polyglandular syndrome). It causes the dysfunction of multiple endocrine glands due to autoimmunity. It is a genetic disorder, inherited in autosomal recessive fashion due to a defect in the ''AIRE'' gene (autoimmune regulator), which is located on chromosome 21 and normally confers immune tolerance. Signs and symptoms APS-1 tends to cause severe symptoms. These are present from early in life, usually around 3.5 years of age. Common symptoms of APS-1 include: * Chronic mucocutaneous candidiasis. * Hypoparathyroidism. * Addison's disease. * Ectodermal dystrophy (skin, dental enamel, and nails). APS-1 may also cause: * Autoimmune hepatitis. * Hypogonadism. * Vitiligo. * Alopecia. * Malabsorption. * Pernicious anemia. * Cataract. * Cerebellar ataxia. Cause APS-1 is caused by a mutation in the AIRE gene, encoding a protein called autoimmune regulator. This is found o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aspartylglucosaminuria
Aspartylglucosaminuria (AGU) is an inherited disease that is characterized by a decline in mental functioning, accompanied by an increase in skin, bone and joint issues. The disease is caused by a defect in an enzyme known as aspartylglucosaminidase. This enzyme plays a significant role in our bodies because it aids in breaking down certain sugars (for example, oligosaccharides) that are attached to specific proteins (for example, glycoproteins). Aspartylglucosaminuria itself is characterized as a lysosomal disease because it does deal with inadequate activity in an enzyme's function. Aspartylglucosaminidase functions to break down glycoproteins. These proteins are most abundant in the tissues of the body and in the surfaces of major organs, such as the liver, spleen, thyroid and nerves. When glycoproteins are not broken down, aspartylglucosaminidase backs up in the lysosomes along with other substances. This backup causes progressive damage to the tissues and organs. Signs and sym ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lethal Arthrogryposis With Anterior Horn Cell Disease
Lethal arthrogryposis with anterior horn cell disease (LAAHD) is an autosomal recessive genetic disorder characterized by reduced mobility of the foetus and early death. Presentation LAAHD resembles LCCS1 disease but the phenotype is milder, with survival beyond 32nd gestational week. However, the foetuses are often stillborn or survive only few minutes. The movements of the foetus during pregnancy are scanty and stiff, often only in upper limbs. The malpositions are distal. The inwards spiral and especially the elbow contractures are less severe than in LCCS1 disease. Some patients have intrauterine long bone fractures. Skeletal muscles are affected and show neurogenic atrophy. The size and shape of spinal cord at different levels are normal but anterior horn motoneurons are diminished in number and degenerated. Molecular genetics LAAHD disease results from compound heterozygosity of GLE1FinMajor and a missense point mutation in exon 13 (6 cases in 3 families) or a missense mu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hereditary Gelsolin Amyloidosis
Familial Amyloidosis, Finnish Type (FAF), also called hereditary gelsolin amyloidosis and AGel amyloidosis (AGel), is an amyloid condition with a number of associated cutaneous and neurological presentations deriving from the aberrant proteolysis of a mutated form of plasma gelsolin. First described in 1969 by the Finnish ophthalmologist Jouko Meretoja, FAF is uncommon with 400–600 cases described in Finland and 15 elsewhere. Clinical presentation The disorder is primarily associated with eye, skin, and cranial nerve symptoms with the onset of symptoms appearing between the thirties and fifties. The most common characteristic is type II lattice corneal dystrophy with other signs such as polyneuropathy, dermatochalasis, open-angle glaucoma, bilateral progressive facial paralysis, cutis laxa, skin fragility with ecchymosis, facial mask, diffuse hair loss, dry skin, carpal tunnel syndrome, nephrotic syndrome, cardiomyopathy with conduction alterations, and early aging associated wi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Eugenics
Eugenics ( ; ) is a fringe set of beliefs and practices that aim to improve the genetic quality of a human population. Historically, eugenicists have attempted to alter human gene pools by excluding people and groups judged to be inferior or promoting those judged to be superior. In recent years, the term has seen a revival in bioethical discussions on the usage of new technologies such as CRISPR and genetic screening, with a heated debate on whether these technologies should be called eugenics or not. The concept predates the term; Plato suggested applying the principles of selective breeding to humans around 400 BC. Early advocates of eugenics in the 19th century regarded it as a way of improving groups of people. In contemporary usage, the term ''eugenics'' is closely associated with scientific racism. Modern bioethicists who advocate new eugenics characterize it as a way of enhancing individual traits, regardless of group membership. While eugenic principles have be ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
