|
Mohr–Tranebjærg Syndrome
Mohr–Tranebjærg syndrome (MTS) is a rare X-linked recessive syndrome also known as deafness–dystonia syndrome and caused by mutation in the TIMM8A gene. It is characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive or , visual impairment from early adulthood onwards and dementia from the 4th decade onwards. The severity of the symptoms may vary, but they progress usually to severe deafness and dystonia and sometimes are accompanied by cortical deterioration of vision and mental deterioration. Signs and Symptoms Mohr-Tranebjærg is characterized by a variety of symptoms affecting hearing loss. In the span of a subject with Mohr-Tranebjærg, by the age of early childhood, around 18 months, the development of quickly progressive prelingual or postlingual sensorineural hearing loss. The presence of auditory symptoms is characterized by preserved oto-acoustic emissions, abnormal auditory brain stem res ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TIMM8A
Mitochondrial import inner membrane translocase subunit Tim8 A, also known as deafness-dystonia peptide or protein is an enzyme that in humans is encoded by the ''TIMM8A'' gene. This translocase has similarity to yeast mitochondrial proteins that are involved in the import of metabolite transporters from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in deafness-dystonia syndrome (or Mohr-Tranebjaerg syndrome; MTS/DFN-1) and it is postulated that MTS/DFN-1 is a mitochondrial disease caused by a defective mitochondrial protein import system. Structure The ''TIMM8A'' gene is located on q arm of chromosome X in position 22.1 and spans 3,313 base pairs. The gene produces an 11 kDa protein composed of 97 amino acids. The structure shows resemblance to yeast translocase of the inner membrane (TIM) proteins with two conserved paired cysteine residue motifs. The cysteine residues organize zinc ions for stability and control other interactions with proteins. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
McLeod Neuroacanthocytosis Syndrome
McLeod may refer to: * McLeod (surname) * Clan MacLeod, a Highland Scottish clan associated with the Isle of Skye Places Canada * McLeod (Edmonton), a residential neighbourhood in Edmonton, Canada * Rural Municipality of McLeod No. 185, Saskatchewan * McLeod River, a river in west-central Alberta, Canada United States * McLeod County, Minnesota * McLeod, Texas, an unincorporated community * McLeod, an unincorporated community in Sweet Grass County, Montana * McLeod, North Dakota * McLeod Plantation, located on James Island, South Carolina India *McLeod Ganj, town in Himachal Pradesh, India Medicine * McLeod Health, an hospital network serving the twelve counties of northeastern South Carolina * McLeod syndrome, an X-linked recessive genetic disorder Tools * McLeod (tool), a two-sided blade used for wildfire suppression and trail conservation * McLeod gauge, a scientific instrument used to measure very low pressures Television * McLeod's Daughters, an Australian telev ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TIMM13
Mitochondrial import inner membrane translocase subunit Tim13 is an enzyme that in humans is encoded by the ''TIMM13'' gene. Function This gene encodes a translocase with similarity to yeast mitochondrial proteins that are involved in the import of metabolite transporters from the cytoplasm and into the mitochondrial inner membrane. The encoded protein and the TIMM8a protein form a 70 kDa complex in the intermembrane space. This gene is in a head-to-tail orientation with the gene for lamin B2. Interactions TIMM13 has been shown to interact with TIMM8A Mitochondrial import inner membrane translocase subunit Tim8 A, also known as deafness-dystonia peptide or protein is an enzyme that in humans is encoded by the ''TIMM8A'' gene. This translocase has similarity to yeast mitochondrial proteins that .... References Further reading * * * * * * * * * * * * {{gene-19-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mitochondrial Disorders
Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells. They convert the energy of food molecules into the ATP that powers most cell functions. Mitochondrial diseases take on unique characteristics both because of the way the diseases are often inherited and because mitochondria are so critical to cell function. A subclass of these diseases that have neuromuscular symptoms are known as mitochondrial myopathies. Types Examples of mitochondrial diseases include: * Mitochondrial myopathy * Diabetes mellitus and deafness (DAD) ** this combination at an early age can be due to mitochondrial disease ** Diabetes mellitus and deafness can be found together for other reasons * Leber's hereditary optic neuropathy (LHON) ** visual loss beginning in young adulthood ** eye disorder characterized by progressive loss of central v ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Acta Genet Stat Med
''Human Heredity'' is a peer-reviewed scientific journal covering all aspects of human genetics. It was established in 1948 as ''Acta Genetica et Statistica Medica'', obtaining its current name in 1969. It is published eight times per year by Karger Publishers and the editor-in-chief is Pak Sham (University of Hong Kong). According to the ''Journal Citation Reports'', the journal has a 2017 impact factor The impact factor (IF) or journal impact factor (JIF) of an academic journal is a scientometric index calculated by Clarivate that reflects the yearly mean number of citations of articles published in the last two years in a given journal, as i ... of 0.542. References External links * Karger academic journals Academic journals established in 1948 Genetics journals English-language journals Behavioural genetics journals 8 times per year journals {{Genetics-journal-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-linked Spinocerebellar Ataxia
Sex linked describes the sex-specific patterns of Heredity, inheritance and Phenotype, presentation when a gene mutation (allele) is present on a sex chromosome (allosome) rather than a non-sex chromosome (autosome). In humans, these are termed X-linked recessive, X-linked dominant and Y-linked. The inheritance and presentation of all three differ depending on the sex of both the parent and the child. This makes them characteristically different from autosomal dominance and recessiveness. There are many more X-linked conditions than Y-linked conditions, since humans have several times as many genes on the X chromosome than the Y chromosome. Only females are able to be carriers for X-linked conditions; males will always be affected by any X-linked condition, since they have no second X chromosome with a healthy copy of the gene. As such, X-linked recessive conditions affect males much more commonly than females. In X-linked recessive inheritance, a son born to a carrier mother a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Wolfram Syndrome
Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders. It was first described in four siblings in 1938 by Dr. Don J. Wolfram, M.D. The disease affects the central nervous system (especially the brainstem). Causes Wolfram syndrome was initially thought to be caused by mitochondrial dysfunction due to its symptoms and several reports of mitochondrial mutations. However, it has now been established that Wolfram syndrome is caused by endoplasmic reticulum dysfunction. Two genetic forms have been described: Wolfram syndrome 1 (WFS1), and Wolfram syndrome 2 (WFS2). WFS1 The WFS1 or wolframin gene provides instructions for making the wolframin protein. The WFS1 gene is active in cells throughout the body, with strong activity in the heart, brain, lungs, inner ear, a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Usher Syndrome
Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome, is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment. It is a major cause of deafblindness and is at present incurable. Usher syndrome is classed into three subtypes (I, II and III) according to the genes responsible and the onset of deafness. All three subtypes are caused by mutations in genes involved in the function of the inner ear and retina. These mutations are inherited in an autosomal recessive pattern. The occurrence of Usher syndrome varies across the world and across the different syndrome types, with rates as high as 1 in 12,500 in Germany to as low as 1 in 28,000 in Norway. Type I is most common in Ashkenazi Jewish and Acadian populations, and type III is rarely found outside Ashkenazi Jewish and Finnish populations. U ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pendred Syndrome
Pendred syndrome is a genetic disorder leading to congenital bilateral (both sides) sensorineural hearing loss and goitre with euthyroid or mild hypothyroidism (decreased thyroid gland function). There is no specific treatment, other than supportive measures for the hearing loss and thyroid hormone supplementation in case of hypothyroidism. It is named after Vaughan Pendred (1869–1946), the British doctor who first described the condition in an Irish family living in Durham in 1896. It accounts for 7.5% to 15% of all cases of congenital deafness. Signs and symptoms The hearing loss of Pendred syndrome is often, although not always, present from birth, and language acquisition may be a significant problem if deafness is severe in childhood. The hearing loss typically worsens over the years, and progression can be step-wise and related to minor head trauma. In some cases, language development worsens after head injury, demonstrating that the inner ear is sensitive to trauma in Pe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mitochondrial DNA Depletion Syndrome
Mitochondrial DNA depletion syndrome (MDS or MDDS), or Alper's disease, is any of a group of autosomal recessive disorders that cause a significant drop in mitochondrial DNA in affected tissues. Symptoms can be any combination of myopathic, hepatopathic, or encephalomyopathic. These syndromes affect tissue in the muscle, liver, or both the muscle and brain, respectively. The condition is typically fatal in infancy and early childhood, though some have survived to their teenage years with the myopathic variant and some have survived into adulthood with the SUCLA2 encephalomyopathic variant. There is currently no curative treatment for any form of MDDS, though some preliminary treatments have shown a reduction in symptoms. Signs and symptoms All forms of MDDS are very rare. MDDS causes a wide range of symptoms, which can appear in newborns, infants, children, or adults, depending on the class of MDDS; within each class symptoms are also diverse. In MDDS associated with mutations ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Deafness
Deafness has varying definitions in cultural and medical contexts. In medical contexts, the meaning of deafness is hearing loss that precludes a person from understanding spoken language, an audiological condition. In this context it is written with a lower case ''d''. It later came to be used in a cultural context to refer to those who primarily communicate through sign language regardless of hearing ability, often capitalized as ''Deaf'' and referred to as "big D Deaf" in speech and sign. The two definitions overlap but are not identical, as hearing loss includes cases that are not severe enough to impact spoken language comprehension, while cultural Deafness includes hearing people who use sign language, such as children of deaf adults. Medical context In a medical context, deafness is defined as a degree of hearing difference such that a person is unable to understand speech, even in the presence of amplification. In profound deafness, even the highest intensity sound ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MELAS Syndrome
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is one of the family of mitochondrial diseases, which also include MIDD (maternally inherited diabetes and deafness, MERRF syndrome, and Leber's hereditary optic neuropathy. It was first characterized under this name in 1984. A feature of these diseases is that they are caused by defects in the mitochondrial genome which is inherited purely from the female parent. The most common MELAS mutation is mitochondrial mutation, mtDNA, referred to as m.3243A>G. Signs and symptoms MELAS is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). In most cases, the signs and symptoms of this disorder appear in childhood following a period of normal development. Children with MELAS often have normal early psychomotor development until the onset of symptoms between 2 and 10 years old. Though less common, infantile onset may occur and may ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
