lack of association between lebers hereditary optic neuropathy primary point mutations and multiple sclerosis in iran
نویسندگان
چکیده
the hypothesis that mitochondrial genes may be implicated in susceptibility to multiple sclerosis (ms) is supported by an increasing number of case reports on lebers hereditary optic neuropathy (lhon)-associated mitochondrial dna (mtdna) point mutations in patients with ms. a number of mtdna mutations with primary pathogenic significance for lhon, a maternally inherited disease causing severe bilateral visual loss predominantly in young men, have been detected in patients with an ms-like phenotype. to evaluate the link between ms and lhon primary point mutations, we investigated 31 non-related iranian clinically definite ms patients (23 females and 8 males) with optic nerve involvement as well as 25 patients (16 females and 9 males) without involvement of the optic nerve as controls. three patients had severe bilateral visual loss without any recovery. we searched for the presence of lhon mitochondrial mutations at nucleotide positions (np) 11,778, 3,460, and 14,484 by mutation-specific polymerase chain reaction and restriction fragment length polymorphism. our results suggest that there is no association between iranian patients with ms and mtdna point mutations at np 11,778, 3,460, and 14,484
منابع مشابه
lack of association between lebers hereditary opticneuropathy primary point mutations and multiple sclerosis in iran
the hypothesis that mitochondrial genes may be implicated in susceptibility to multiple sclerosis (ms) is supported by an increasing number of case reports on lebers hereditary optic neuropathy (lhon)-associated mitochondrial dna (mtdna) point mutations in patients with ms. a number of mtdna mutations with primary pathogenic significance for lhon, a maternally inherited disease causing severe b...
متن کاملthe spectrum of mitochondrial dna mutations in iranian lebers hereditary optic neuropathy patients
we studied 74 patients with lebers hereditary optic neuropathy (lhon) to investigate causative mtdna mutations (g3460a, g11778a, t14484c, g4459a) in iranian lhon patients. fifty two patients carried the mitochondrial dna (mtdna) g11778a mutation, while one had the t14484c mutation 4 patients had the g3460a mutation and one had the g14459a mutation. our results showed a similarity in the pattern...
متن کاملMultiple sclerosis associated with Leber's Hereditary Optic Neuropathy.
The cause of multiple sclerosis is unknown although it is recognised to involve an inflammatory process associated with demyelinating plaques and more widespread neurodegeneration. It appears to have become progressively more common in females which is further discussed in this issue, and genetic factors, as identified to date, appear to play only a moderate role. One curious observation is tha...
متن کاملMutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy
PURPOSE There are many similarities in the clinical presentation of Leber hereditary optic neuropathy (LHON) and in patients who have optic neuropathy and a history of heavy tobacco and alcohol consumption. The main objective of this study is to investigate the frequency of primary and secondary mitochondrial DNA (mtDNA) mutations for LHON in patients diagnosed as having alcohol and tobacco opt...
متن کاملIdentification of novel mitochondrial mutations in Leber’s hereditary optic neuropathy
PURPOSE To screen mitochondrial DNA (mtDNA) variations in Leber hereditary optic neuropathy (LHON). METHODS Ten LHON patients were selected from neuro-ophthalmology clinics of All India Institute of Medical Sciences (AIIMS), New Delhi, India. Clinical evaluation included slit-lamp biomicroscopy, fundus examination, and neuroimaging. DNA was isolated from whole blood samples. The entire coding...
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عنوان ژورنال:
genetics in the 3rd millenniumجلد ۷، شماره ۳، صفحات ۱۸۰۷-۱۸۰۷
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