Folate metabolic pathways in the mitochondrial recessive ataxia syndrome

Show full item record



Permalink

http://urn.fi/URN:NBN:fi:hulib-201606152439
Title: Folate metabolic pathways in the mitochondrial recessive ataxia syndrome
Author: Viitanen, Janne
Other contributor: Helsingin yliopisto, Lääketieteellinen tiedekunta
University of Helsinki, Faculty of Medicine
Helsingfors universitet, Medicinska fakulteten
Publisher: Helsingfors universitet
Date: 2016
Language: eng
URI: http://urn.fi/URN:NBN:fi:hulib-201606152439
http://hdl.handle.net/10138/164165
Thesis level: master's thesis
Discipline: Neurology
Neurologia
Neurologi
Abstract: Objective Mitochondrial recessive ataxia syndrome (MIRAS) patients' phenotypes vary from early onset epileptic seizures to late onset ataxia and neuropathy. We aim to find possible phenotype influencing and this study focuses on folate as a predisposing factor. Methods MIRAS Patients (n=8; 2 early-onset, 3-early-adult-onset, 3 late-onset; all carriers of W748S) were interviewed, eating habits analyzed with food diaries and patients' folate levels analyzed. Results Early onset patients were markedly overweight at age of onset, while late-onset patients were mostly of normal weight at age of onset. Folate intake was inadequate but blood folate values were in normal range. Patients' folate serum levels were noticeably but non-significantly lower than controls', the levels correlated with age of onset(p<0,05). Patient erythrocyte folate levels did not differ from controls. Conclusion Weight gain and serum folate levels may be associated with an earlier age of onset. Patient folate levels are not markedly different from controls.
Subject: mitochondrial diseases
neuromuscular diseases
human POLG protein
Ataxia Neuropathy Spectrum
phenotype


Files in this item

Files Size Format View

There are no files associated with this item.

This item appears in the following Collection(s)

Show full item record