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Archiver > GENEALOGY-DNA > 2010-03 > 1268401670


From: "Ian Logan" <>
Subject: [DNA] CORRECTION mtDNA mutation T3398C - Is it good or bad ?
Date: Fri, 12 Mar 2010 13:47:50 -0000
References: <049C92ABB0C447E99380D09C364B36AC@IanPC>
In-Reply-To: <049C92ABB0C447E99380D09C364B36AC@IanPC>


(Sorry: T3398C not T3389C)

List

A new paper from Tang, et al. at the University of California, Irvine,
discusses a possible link between the uncommon mutation T3398C
and a very rare heart condition.

The PubMed abstract for the paper is given below.
(The actual paper also mentions my name which is pleasing.)

Interestingly, T3398C has occurred on GenBank 21 times; and a mutation
at this frequency would not normally be considered pathological.
But the mutation appears to be 'sporadic'; and a link, whilst perhaps unlikely,
is possible.

I am in contact with two FTDNA clients who have this mutation
- GenBank accession numbers: GQ168843 & GU371930

But I know there are other people who have this mutation; and I will
be very pleased to hear from anyone who finds they have the mutation T3398C.

Thank you

Ian
www.ianlogan.co.uk

......................
Mitochondrion. 2010 Mar 5.
Left Ventricular Noncompaction is Associated with Mutations in the Mitochondrial Genome.
Tang S, Batra A, Zhang Y, Ebenroth ES, Huang T.
Division of Human Genetics/Department of Pediatrics, University of California, Irvine.

Left ventricular noncompaction (LVNC) is a genetically heterogeneous condition and several nuclear
loci have been associated with the defect. However, they only account for a small percentage of
patients. Existing evidences suggest that pathogenic mitochondrial DNA (mtDNA) mutations and
consequent mitochondrial malfunction can be an important component in the etiology of LVNC. To
investigate if mtDNA mutation can serve as a primary cause for LVNC, complete nucleotide sequences
of mitochondrial genomes from 20 LVNC patients were determined by Illumina parallel sequencing
technology and analyzed by MitoMaster. Substitutions of a highly conserved Met31 in ND1 caused by
rare mitochondrial single nucleotide polymorphisms (mtSNP) A3397G and T3398C were identified from
two LVNC patients. Previously, T3398C has been reported from another LVNC patient, indicating
mutations in Met31 in ND1 and resultant defects in complex I can be associated with LVNC.
Additionally, three mtSNPs in protein-coding genes, seven variants in rRNA genes, and two
transitions in tRNA genes were unrelated to the haplogroup and infrequent in the general
population,
suggesting that these mtSNPs could also be pathogenic. Our study revealed some mtSNPs could
represent pathogenic mutations, lead to compromised mitochondrial function, and be associated with
LVNC.
...................


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