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Related Concept Videos

Animal Mitochondrial Genetics02:59

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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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Mitochondrial DNA sequence variation in multiple sclerosis.

Gregory J Tranah1, Adam Santaniello2, Stacy J Caillier2

  • 1From the California Pacific Medical Center Research Institute (G.J.T.), San Francisco, CA; Department of Neurology (A.S., S.J.C., S.L.H., J.R.O.), University of California, San Francisco; Department of Health Sciences (S.D.), UPO and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Eastern Piedmont, Avogadro, Novara, Italy; and Department of Neuro-rehabilitation and INSPE (Institute of Experimental Neurology) (F.M.B.), Scientific Institute San Raffaele, Milan, Italy. gtranah@sfcc-cpmc.edu.

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|July 3, 2015
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Summary
This summary is machine-generated.

Mitochondrial DNA haplogroups JT, T, and J show an increased risk for multiple sclerosis (MS). Haplogroup J is specifically linked to primary progressive MS (PPMS), offering potential therapeutic targets.

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Area of Science:

  • Genetics
  • Neurology
  • Mitochondrial Biology

Background:

  • Multiple sclerosis (MS) is a complex neurological disorder with a significant genetic component.
  • Mitochondrial DNA (mtDNA) variations are increasingly recognized for their potential role in various diseases.
  • Understanding the genetic architecture of MS is crucial for developing effective treatments.

Purpose of the Study:

  • To investigate the association between common mitochondrial DNA (mtDNA) sequence variations and the risk of developing multiple sclerosis (MS).
  • To analyze the influence of mtDNA haplogroups on MS susceptibility in a large international cohort.

Main Methods:

  • Analysis of 115 high-quality mtDNA variants and common haplogroups from genome-wide association studies.
  • Utilized data from the International Multiple Sclerosis Genetics Consortium (7,391 cases) and Wellcome Trust Case Control Consortium 2 (14,568 controls).
  • Replication of significant findings in independent cohorts from the University of California, San Francisco.

Main Results:

  • An elevated risk of MS was associated with haplogroup JT carriers (OR = 1.15, p = 0.0002) in the discovery cohort.
  • Haplogroups T (OR = 1.17, p = 0.002) and J (OR = 1.11, p = 0.03) also showed increased MS risk, though not replicated.
  • Haplogroup J demonstrated a significant association with primary progressive MS (PPMS) (OR = 1.43, p = 0.002) in pooled analyses.

Conclusions:

  • Specific mitochondrial DNA haplogroups, particularly JT and J, are associated with an increased risk of multiple sclerosis.
  • Haplogroup J shows a notable association with primary progressive MS, suggesting a potential role in disease subtype pathogenesis.
  • These findings may identify novel therapeutic targets and biomarkers for MS, especially for interventions aimed at mitochondria.