View Full Version : Indo-European genetic diseases

Jean M
01-27-2015, 11:16 PM
I have just noticed this paper from 2004: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735862/pdf/v041p0e104.pdf

J. S. Muller et al, The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder, J. Med Genet 2004; 41

Key points:

Mutations in various genes of the neuromuscular junction cause congenital myasthenic syndromes (CMS). The protein rapsyn is encoded by the RAPSN
gene and clusters acetylcholine receptors (AChR) at the motor endplate. Recessive mutations of RAPSN result in AChR deficiency and impaired neuromuscular
A single missense mutation of RAPSN (N88K) detected frequently in patients of European ethnic origin results in early and late onset forms of CMS. Three studies suggested that RAPSN (N88K) may derive from a common founder, while a fourth study could not corroborate this hypothesis. Therefore, we investigated 21 patients of European and Indian ethnic origin studying a total of 41 mutant RAPSN (N88K) alleles.
Analysis of 21 single nucleotide polymorphisms (SNPs) flanking RAPSN on chromosome 11p11 revealed a common conserved haplotype encompassing a distance of about 360 kb. Our results support the hypothesis that RAPSN (N88K) derives from a single founder event in an ancient Indo-European population.

They conclude:

Therefore, estimation of the age of the founder mutation is difficult. According to historical and linguistic evidence ancient tribes migrated and divided around 2000 BC giving rise to the related Indo-European populations and languages. Therefore, the RAPSN (N88K) mutation may have originated prior to these
divisions. This is in good agreement with two findings. Firstly, RAPSN (N88K) was detected in patients of different European and Indian subcontinent origin. Secondly, RAPSN (N88K) has not been reported in CMS patients of sub-Saharan African or East Asian ethnic origin. Similarly, an age of approximately 4000 years has been assigned to the founder mutation of myotonic dystrophy type II detected in various European and Afghan patients.

06-10-2017, 12:57 AM
Recently diagnosed with myasthenia Gravis...Haplogroup R1b-FGC10124 w/heavy I1 admixture

11-25-2017, 10:39 PM
Never heard of IndoEuropean specific diseases.

Pascal C
11-27-2017, 09:02 AM
I doubt only IE speaking peoples get them, but I could be wrong