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International Society for Mountain Medicine - VIWCMM Abstracts (Page 1)

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International Society for Mountain Medicine - VIWCMM Abstracts
VI World Congress on Mountain Medicine & High Altitude Physiology
V Annual Meeting for Chinese High Altitude Medicine
Abstracts
1.
ENDOTHELIAL NITRIC OXIDE SYNTHASE ALLELIC VARIANTS AT THE SAME
LOCUS ASSOCIATE WITH HIGH ALTITUDE PULMONARY EDEMA AND
ADAPTATION. Aarif Ahsan
1
, Tsering Norboo
2
, M A Baig
3
, M A Qadar Pasha
1
. Institute of
Genomics and Integrative Biology, Delhi, India
1
, Ladakh Heart Foundation, Leh, Ladakh, J&K,
India
2
, Department of Biochemistry, Hamdard University, New Delhi, India
3
.
Highland natives and sojourners who suffer from high-altitude (HA) disorders display
contrasting phenotypes under hypoxic conditions, perhaps because of involvement of allelic
variants at the same locus. Moreover, the selective pressures involved in HA adaptation reflected
in the selection of beneficial alleles may be influenced by the difference in the routine physical
activities of the populations. To test this hypothesis, we investigated the Glu298Asp and 27-bp
4b/4a VNTR polymorphisms of the endothelial nitric oxide synthase gene (eNOS) in four Indian
groups: high-altitude pulmonary edema patients (HAPE-p), HAPE-resistant lowlanders (HAPE-
r), HA monks (HAM) and HA controls (HAC). The latter two were natives of Ladakh (3400m).
The NO-levels were significantly elevated in both HA groups (HLs), whereas HAPE-p had
lowest (P<0.0001). The levels were in the order of HAMHACHAPE-rHAPE-p. The Asp allele
was over-represented in the HAPE-p when compared with HLs (<0.0001) and HAPE-r (0.03).
The 4a allele was over-represented in the HAPE-p when compared with HLs (P<0.0001) and
HAPE-r (P=0.08). Consequently, the frequency order of both the wild-type alleles, Glu and 4b,
was HAMHACHAPE-rHAPE-p. The distribution of wild-type genotype combination
Glu298Glu-4b/4b was significantly higher in HLs, 69% in HAM and 66% in HAC, when
compared with 20% of HAPE-p (P<0.0001), and 40% of HAPE-r (P=0.001). The same
combination was significantly higher in HAPE-r when compared with HAPE-p (P<0.001).
Furthermore, the wild-type genotype combination Glu298Glu-4b/4b correlated with significantly
elevated NO levels when compared with the remaining eight combinations together in the four
groups (P<0.05 each). The over-representation of eNOS Asp and 4a alleles in HAPE-p associates
these alleles with the disorder, whereas over-representation of Glu and 4b alleles in HLs
associates with adaptation at HA. HAM exhibited developmental adaptation.
2.
DISCUSSION OF THE EXCRETIVE CHANGES AND MECHANISM OF URINARY
ALBUMIN AND N-ACETYL-BETA-GLUCOSAMINIDASE IN PATIENTS WITH
POLYCYTHEMIA AT DIFFERENT ALTITUDES. Xi Ai-Qi
1
, Chu Yi-De
1
, Zhang Xin-Sheng
2
.
Geriatric Department of Qinghai People Hospital, Xining, Qinghai; P.R.China
1
, Geriatric
Department of Qinghai PeopleHospital, Xining, Qinghai,P.R.China
2
.
Purpose: To study the changes in the amount of Albumin (ALB) and N-acetyl-beta-D-
glucosaminidase (NAG) excretion in patients with high altitude polycythemia (HAPC) at
different altitudes and its relation with erythrocytic biophysical properities. METHOD Urinary

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