Sökning: "Mitochondrial mutation"

Hittade 4 uppsatser innehållade orden Mitochondrial mutation.

1. 1. Transcriptional basis of Huntington’s Disease: Gene expression analysis indicate increased immune responses in the brain and mitochondrial dysfunction in adipose tissues of HD model mouse

   Master-uppsats, KTH/Proteinvetenskap

   Författare :Intisar Salim; [2023]
   Nyckelord :Huntington’s Disease; mRNA-seq; tissue specific gene expression; cerebrospinal fluid; biomarker; Huntingtons sjukdom; mRNA-seq; vävnadsspecifik genexpression; cerebrospinalvätska; biomarkör;

   Sammanfattning : Huntingtons sjukdom (HD) är ett neurodegenerativt tillstånd som orsakas av mutationer i huntingtin gen (Htt), och resulterar till upprepade glutamin (polyQ) i Htt-proteinet. Muterad Htt kan inte vika sig ordentligt och börjar därför aggregera i celler. LÄS MER

3. 2. Optimization of a multiplex ARMS-PCR for detection of the primary mutations causing Leber’s hereditary optic neuropath

   Kandidat-uppsats, Uppsala universitet/Institutionen för kvinnors och barns hälsa

   Författare :Klara Jäder; [2020]
   Nyckelord :Allele-specific PCR; LHON; Multiplex Polymerase Chain Reaction; mitochondrial DNA; single nucleotide polymorphism;

   Sammanfattning : Leber’s hereditary optic neuropathy (LHON) is a genetic disease that causes the patients to become blind, first in one eye and then the other, around the ages of 10-75 years. The disease is caused by mutations in the mitochondrial DNA, which disturbs the respiratory chain leading to the deterioration of the retinal ganglion cells. LÄS MER

4. 3. Optimization of a Multiplex PCR-RFLP Method Used for Detection of Three Primary Mutations in Leber’s Hereditary Optic Neuropathy Patients

   Kandidat-uppsats, Uppsala universitet/Institutionen för kvinnors och barns hälsa

   Författare :Emilia Nord; [2020]
   Nyckelord :LHON; Restriction enzyme; Multiplex PCR; Mutation detection; Mitochondrial mutation;

   Sammanfattning : Leber’s hereditary optic neuropathy (LHON) is the most commonly inherited disease that causes blindness in one or both eyes, with a minimum prevalence of 1 in 31 000 in the northeast of England. What causes LHON is not fully known but three mitochondrial mutations, G3460A, G11778A, and T14484C, have been identified in over 95 % of all LHON patients. LÄS MER

5. 4. Diagnosis of Leber’s hereditary optic neuropathy (LHON) : analysis of MT-ND1, MT-ND4 and MT-ND6 in patients with LHON

   Magister-uppsats, Institutionen för medicinsk biokemi och mikrobiologi

   Författare :Alexandra Ågersten; [2009]
   Nyckelord :Leber’s hereditary optic neuropathy; LHON; Mitochondrial DNA; Polymorphism; Mutation;

   Sammanfattning : Leber´s hereditary optic neuropathy (LHON), a disease affecting vision, is caused by several point mutations in mitochondrial DNA. Mutations leading to a defect NADH ubiquinone oxidoreductase protein will affect the respiratory chain and cause a disturbed ATP production. LÄS MER