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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] |
