Heterozygous Polg mutation causes motor dysfunction due to mt DNA deletions
نویسندگان
چکیده
منابع مشابه
Heterozygous Polg mutation causes motor dysfunction due to mtDNA deletions
OBJECTIVE Mutations in nuclear-encoded mitochondrial DNA (mtDNA) polymerase (POLG) are known to cause autosomal dominant chronic progressive external ophthalmoplegia (adCPEO) with accumulation of multiple mtDNA deletions in muscles. However, no animal model with a heterozygous Polg mutation representing mtDNA impairment and symptoms of CPEO has been established. To understand the pathogenic mec...
متن کاملHeterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K
Class IA phosphatidylinositol 3-kinases (PI3K), which generate PIP3 as a signal for cell growth and proliferation, exist as an intracellular complex of a catalytic subunit bound to a regulatory subunit. We and others have previously reported that heterozygous mutations in PIK3CD encoding the p110δ catalytic PI3K subunit cause a unique disorder termed p110δ-activating mutations causing senescent...
متن کاملPermanent neonatal diabetes due to a heterozygous INS mutation
Permanent Neonatal Diabetes Mellitus (PNDM) is a rare disorder where patient presents with diabetes within the first few months of life without autoantibodies associated with type 1 diabetes. The majority of PNDM cases have INS, ABCC8 or KCNJ11 mutations. We present a PNDM case with INS mutation. The proband is a second child of three siblings without family history of diabetes. She was born at...
متن کاملInsensitivity to pain due to Genetic Mutation
Pain is neuroanatomically, psychologically and neurophysiologically complicated and its first function is protecting all alive creature body. This issue is so questionable and interesting that people who don’t feel pain how face this sensation and what problems threaten them. So many researchers by using 73 references, articles from electronical and library references have done a clinical...
متن کاملDepolarizing bipolar cell dysfunction due to a Trpm1 point mutation.
Mutations in TRPM1 are found in humans with an autosomal recessive form of complete congenital stationary night blindness (cCSNB). The Trpm1(-/-) mouse has been an important animal model for this condition. Here we report a new mouse mutant, tvrm27, identified in a chemical mutagenesis screen. Genetic mapping of the no b-wave electroretinogram (ERG) phenotype of tvrm27 localized the mutation to...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Annals of Clinical and Translational Neurology
سال: 2014
ISSN: 2328-9503,2328-9503
DOI: 10.1002/acn3.133